V13A (p.Val13Ala) variant of GABRG2 (P18507)
V13A (p.Val13Ala) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- gnomAD 5-162036882-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 3.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available