S4F (p.Ser4Phe) variant of GABRA1 (P14867)
S4F (p.Ser4Phe) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- gnomAD 5-161850651-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 20.40
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available