L35V (p.Leu35Val) variant of GABRA1 (P14867)
L35V (p.Leu35Val) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- gnomAD 5-161854186-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.94
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available