T22S (p.Thr22Ser) variant of GABRA1 (P14867)
T22S (p.Thr22Ser) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T22S (p.Thr22Ser) variant details
- p.Thr22Ser
- gnomAD 5-161850875-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.97
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available