G76R (p.Gly76Arg) variant of CYP11B1 (P15538)
G76R (p.Gly76Arg) 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 0.73 / 1. The record also includes population frequency data and structural context.
G76R (p.Gly76Arg) variant details
- p.Gly76Arg
- NCI-TCGA Cosmic COSV9945
- cosmic curated COSV99454
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.70
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available