G6S (p.Gly6Ser) variant of GABRA1 (P14867)
G6S (p.Gly6Ser) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- gnomAD 5-161850826-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.06
- MetaLR 0.21
- MetaSVM -0.98
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available