S25N (p.Ser25Asn) variant of GABRA1 (P14867)
S25N (p.Ser25Asn) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S25N (p.Ser25Asn) variant details
- p.Ser25Asn
- TOPMed rs1363320617
- gnomAD rs1363320617
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.23
- CADD 34.00
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available