S152R (p.Ser152Arg) variant of HSD17B3 (P37058)
S152R (p.Ser152Arg) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S152R (p.Ser152Arg) variant details
- p.Ser152Arg
- cosmic curated COSV64557
- Ensembl rs1587724901
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.33
- MetaLR 0.25
- MetaSVM -0.81
- CADD 8.09
- PolyPhen-2 0.04
- SIFT 0.23
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available