A13V (p.Ala13Val) variant of GABRA1 (P14867)
A13V (p.Ala13Val) 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.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs1757414159
- gnomAD 5-161850809-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 14.20
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available