R71H (p.Arg71His) variant of HSD17B3 (P37058)
R71H (p.Arg71His) in HSD17B3 (P37058) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R71H (p.Arg71His) variant details
- p.Arg71His
- rs1029381659
- cosmic curated COSV10890
- TOPMed rs1029381659
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.20
- MetaLR 0.50
- MetaSVM -0.54
- CADD 3.65
- PolyPhen-2 0.06
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available