Y26C (p.Tyr26Cys) variant of GABRA1 (P14867)
Y26C (p.Tyr26Cys) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Y26C (p.Tyr26Cys) variant details
- p.Tyr26Cys
- TOPMed rs1011798545
- gnomAD rs1011798545
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.21
- CADD 14.30
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available