V41F (p.Val41Phe) variant of GABRA1 (P14867)
V41F (p.Val41Phe) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V41F (p.Val41Phe) variant details
- p.Val41Phe
- rs1237165467
- gnomAD 5-161850641-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 19.80
- SIFT 0.03
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available