A56V (p.Ala56Val) variant of HSD17B3 (P37058)
A56V (p.Ala56Val) in HSD17B3 (P37058) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in MPH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
A56V (p.Ala56Val) variant details
- p.Ala56Val
- NCI-TCGA Cosmic COSV6455
- cosmic curated COSV64557
- Variant assessed as somatic; moderate impact.
- in MPH
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.89
- MetaLR 0.95
- MetaSVM 1.08
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.28
- UniProt: Variant assessed as somatic; moderate impact. (in MPH)
- Population evidence available
- Structural context available