Classification
Category 3
CMH MAF
103 /
8745 samples
(1.18%)
103 het.,
0 hom.
(100%)
103 /
17490 total alleles
(0.589%)
Genes
gene: PKLR
synonym(s): PK1, PKL, PKR, PKRL, RPK, PKLR, ENSG00000143627
NM_000298.5
[CDS]
Reportable
hgvs_c: NM_000298.5:c.1516G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 1555
CDS pos: 1516
translation impact: non_synonymous
protein sequence:
NP_000289.1
AA pos: 506
hgvs_p: NP_000289.1:p.Val506Ile
blosum: 3
SIFT: tolerated (0.25)
PolyPhen2: benign (0.003)
NM_181871.3
[CDS]
hgvs_c: NM_181871.3:c.1423G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 1537
CDS pos: 1423
translation impact: non_synonymous
protein sequence:
NP_870986.1
AA pos: 475
hgvs_p: NP_870986.1:p.Val475Ile
blosum: 3
SIFT: tolerated (0.21)
PolyPhen2: benign (0.004)
dbSNP
rs8177988
GMAF = 0.002196
TOPMED_MAF = 0.00410136340468909
ClinVar
235407
clinvar_significance = Uncertain_significance
clinvar_submission_scv = SCV000280976.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.005116,0.001589,0.003921
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
16 / 10394 |
0.154% |
| America/Latino |
18 / 11568 |
0.156% |
| East Asian |
0 / 8648 |
0% |
| Finnish |
11 / 6612 |
0.166% |
| Non-Finnish |
342 / 66680 |
0.513% |
| Other |
5 / 906 |
0.552% |
| South Asian |
117 / 16512 |
0.709% |
| Total MAF |
509 / 121320 |
0.42% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
27 / 24030 |
0.112% |
| America/Latino |
90 / 34418 |
0.261% |
| Ashkenazi Jewish |
22 / 10150 |
0.217% |
| East Asian |
0 / 18870 |
0% |
| Finnish |
36 / 25790 |
0.14% |
| Non-Finnish |
760 / 126706 |
0.6% |
| Other |
26 / 6462 |
0.402% |
| South Asian |
217 / 30782 |
0.705% |
| Total MAF |
1178 / 277208 |
0.425% |
Export Variant