V18G (p.Val18Gly) variant of GABRG2 (P18507)
V18G (p.Val18Gly) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V18G (p.Val18Gly) variant details
- p.Val18Gly
- rs1477501417
- gnomAD 5-162036891-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 6.22
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available