Classification
Category 3
non_synonymous
CMH MAF
1 /
14969 samples
(0.00668%)
1 het.,
0 hom.
(100%)
1 /
29938 total alleles
(0.00334%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: ZMPSTE24
synonym(s): FACE-1, FACE1, HGPS, PRO1, STE24, Ste24p, ZMPSTE24, ENSG00000084073
NM_005857.4
[CDS]
Reportable
hgvs_c: NM_005857.4:c.729G>C
reference AA: K
variant AA: N
reference codon: aaG
variant codon: aaC
cDNA pos: 951
CDS pos: 729
translation impact: non_synonymous
protein sequence:
NP_005848.2
AA pos: 243
hgvs_p: NP_005848.2:p.Lys243Asn
blosum: 0
SIFT: tolerated (0.27)
PolyPhen2: benign (0.068)
Export Variant
Curation
Uncertain Significance