S25S (p.Ser25Ser) variant of GABRA1 (P14867)
S25S (p.Ser25Ser) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S25S (p.Ser25Ser) variant details
- p.Ser25Ser
- rs75423500
- gnomAD 5-161854158-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 13.70
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Literature evidence available