A87T (p.Ala87Thr) variant of HSD17B3 (P37058)
A87T (p.Ala87Thr) 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.
A87T (p.Ala87Thr) variant details
- p.Ala87Thr
- TOPMed rs1158193512
- gnomAD rs1158193512
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.12
- MetaLR 0.50
- MetaSVM -0.66
- CADD 9.75
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available