V132A (p.Val132Ala) variant of HSD17B3 (P37058)
V132A (p.Val132Ala) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V132A (p.Val132Ala) variant details
- p.Val132Ala
- TOPMed rs1825407679
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.69
- MetaLR 0.52
- MetaSVM 0.12
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available