V41A (p.Val41Ala) variant of GABRA1 (P14867)
V41A (p.Val41Ala) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- rs1411116374
- gnomAD 5-161850642-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 19.30
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available
- Literature evidence available