R94G (p.Arg94Gly) variant of HSD17B3 (P37058)
R94G (p.Arg94Gly) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R94G (p.Arg94Gly) variant details
- p.Arg94Gly
- ExAC rs753222380
- gnomAD rs753222380
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.25
- MetaLR 0.46
- MetaSVM -0.44
- CADD 0.02
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available