V18D (p.Val18Asp) variant of GABRG2 (P18507)
V18D (p.Val18Asp) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V18D (p.Val18Asp) variant details
- p.Val18Asp
- rs1477501417
- gnomAD 5-162036891-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 7.29
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available