S65A (p.Ser65Ala) variant of HSD17B3 (P37058)
S65A (p.Ser65Ala) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S65A (p.Ser65Ala) variant details
- p.Ser65Ala
- 1000Genomes rs562239313
- ExAC rs562239313
- gnomAD rs562239313
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.25
- MetaLR 0.07
- MetaSVM -0.83
- CADD 1.49
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available