A51V (p.Ala51Val) variant of HSD17B3 (P37058)
A51V (p.Ala51Val) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- ExAC rs767254534
- TOPMed rs767254534
- gnomAD rs767254534
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.70
- MetaLR 0.72
- MetaSVM 0.53
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available