S19C (p.Ser19Cys) variant of GABRA1 (P14867)
S19C (p.Ser19Cys) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- gnomAD 5-161850680-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 21.60
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available