A87S (p.Ala87Ser) variant of HSD17B3 (P37058)
A87S (p.Ala87Ser) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A87S (p.Ala87Ser) variant details
- p.Ala87Ser
- TOPMed rs1158193512
- gnomAD rs1158193512
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- MetaLR 0.46
- MetaSVM -0.70
- CADD 9.10
- PolyPhen-2 0.05
- SIFT 0.58
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available