R94W (p.Arg94Trp) variant of HSD17B3 (P37058)
R94W (p.Arg94Trp) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R94W (p.Arg94Trp) variant details
- p.Arg94Trp
- ExAC rs753222380
- gnomAD rs753222380
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.29
- MetaLR 0.72
- MetaSVM -0.31
- CADD 0.11
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available