R84H (p.Arg84His) variant of HMGCR (P04035)
R84H (p.Arg84His) in HMGCR (P04035) 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 0.65 / 1. The record also includes population frequency data and structural context.
R84H (p.Arg84His) variant details
- p.Arg84His
- rs372565038
- cosmic curated COSV55315
- ESP rs372565038
- ExAC rs372565038
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.59
- CADD 23.30
- PolyPhen-2 0.27
- SIFT 0.39
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available