A56V (p.Ala56Val) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
A56V (p.Ala56Val) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- rs1314428665
- gnomAD rs1314428665
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- MetaLR 0.09
- MetaSVM -0.98
- CADD 22.00
- PolyPhen-2 0.32
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available