G64V (p.Gly64Val) variant of AQP2 (Aquaporin-2)
G64V (p.Gly64Val) 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.
G64V (p.Gly64Val) variant details
- p.Gly64Val
- gnomAD 12-49951021-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available