Classification
Category 3
non_synonymous
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: DDX59
synonym(s): RP11-92G12.2, ZNHIT5, DDX59, ENSG00000118197
NM_001031725.4
[CDS]
Reportable
hgvs_c: NM_001031725.4:c.385T>G
reference AA: L
variant AA: V
reference codon: Ttg
variant codon: Gtg
cDNA pos: 628
CDS pos: 385
translation impact: non_synonymous
protein sequence:
NP_001026895.2
AA pos: 129
hgvs_p: NP_001026895.2:p.Leu129Val
blosum: 1
SIFT: tolerated (0.06)
PolyPhen2: probably_damaging (1.0)
Export Variant
Curation
Uncertain Significance