V102V (p.Val102Val) variant of AQP4 (Aquaporin-4)
V102V (p.Val102Val) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V102V (p.Val102Val) variant details
- p.Val102Val
- rs375133353
- gnomAD 18-26862323-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 9.16
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available
- Literature evidence available