G58C (p.Gly58Cys) variant of GABRB3 (P28472)
G58C (p.Gly58Cys) 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 0.79 / 1. The record also includes population frequency data and structural context.
G58C (p.Gly58Cys) variant details
- p.Gly58Cys
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10016
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.80
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available