S4C (p.Ser4Cys) variant of GABRA1 (P14867)
S4C (p.Ser4Cys) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- gnomAD 5-161850820-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.90
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available