L7V (p.Leu7Val) variant of GABRA1 (P14867)
L7V (p.Leu7Val) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- gnomAD rs1484870497
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.09
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available