R84C (p.Arg84Cys) variant of HMGCR (P04035)
R84C (p.Arg84Cys) 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 0.79 / 1. The record also includes population frequency data and structural context.
R84C (p.Arg84Cys) variant details
- p.Arg84Cys
- rs1354325261
- NCI-TCGA Cosmic COSV5531
- cosmic curated COSV55315
- gnomAD rs1354325261
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.78
- CADD 28.80
- PolyPhen-2 0.95
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available