G6V (p.Gly6Val) variant of GABRA1 (P14867)
G6V (p.Gly6Val) 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 0.25 / 1. The record also includes population frequency data and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- NCI-TCGA Cosmic COSV9919
- cosmic curated COSV99195
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.13
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available