L31S (p.Leu31Ser) variant of GABRA1 (P14867)
L31S (p.Leu31Ser) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L31S (p.Leu31Ser) variant details
- p.Leu31Ser
- gnomAD 5-161854175-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -0.92
- CADD 13.00
- PolyPhen-2 0.19
- SIFT 0.92
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available