I62V (p.Ile62Val) variant of AQP2 (Aquaporin-2)
I62V (p.Ile62Val) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- gnomAD 12-49951014-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.19
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available