A121S (p.Ala121Ser) variant of HSD17B3 (P37058)
A121S (p.Ala121Ser) 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.
A121S (p.Ala121Ser) variant details
- p.Ala121Ser
- Ensembl rs1587729516
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.23
- MetaLR 0.54
- MetaSVM -0.35
- CADD 0.19
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available