V8V (p.Val8Val) variant of AQP5 (Aquaporin-5)
V8V (p.Val8Val) in AQP5 (Aquaporin-5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V8V (p.Val8Val) variant details
- p.Val8Val
- gnomAD 12-49962041-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 1.90
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available