G29V (p.Gly29Val) variant of AQP2 (Aquaporin-2)
G29V (p.Gly29Val) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- gnomAD 12-49950916-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.93
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available