L77V (p.Leu77Val) variant of HSD17B3 (P37058)
L77V (p.Leu77Val) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L77V (p.Leu77Val) variant details
- p.Leu77Val
- TOPMed rs1478715937
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.58
- MetaLR 0.79
- MetaSVM 0.82
- CADD 22.30
- PolyPhen-2 0.42
- SIFT 0.10
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available