R51C (p.Arg51Cys) variant of GABRB3 (P28472)
R51C (p.Arg51Cys) in GABRB3 (P28472) 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 0.85 / 1. The record also includes population frequency data and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54665
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.92
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available