L82V (p.Leu82Val) variant of HSD17B3 (P37058)
L82V (p.Leu82Val) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L82V (p.Leu82Val) variant details
- p.Leu82Val
- gnomAD rs1447402833
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.09
- MetaLR 0.40
- MetaSVM -0.74
- CADD 14.80
- PolyPhen-2 0.04
- SIFT 0.26
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available