G6C (p.Gly6Cys) variant of GABRA1 (P14867)
G6C (p.Gly6Cys) in GABRA1 (P14867) 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 0.21 / 1. The record also includes population frequency data and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- rs1214814997
- NCI-TCGA Cosmic COSV9919
- cosmic curated COSV99195
- TOPMed rs1214814997
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.15
- CADD 19.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available