R44C (p.Arg44Cys) variant of CYP11B1 (P15538)
R44C (p.Arg44Cys) in CYP11B1 (P15538) 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 0.10 / 1. The record also includes population frequency data and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs761472886
- NCI-TCGA Cosmic COSV9945
- cosmic curated COSV99455
- ExAC rs761472886
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0954
- REVEL 0.08
- CADD 7.59
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available