V18A (p.Val18Ala) variant of GABRG2 (P18507)
V18A (p.Val18Ala) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- rs1477501417
- gnomAD 5-162036891-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 2.78
- SIFT 0.38
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available