G51V (p.Gly51Val) variant of AQP2 (Aquaporin-2)
G51V (p.Gly51Val) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- gnomAD 12-49950982-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.24
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available