I7V (p.Ile7Val) variant of AQP2 (Aquaporin-2)
I7V (p.Ile7Val) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- TOPMed rs1278004193
- gnomAD rs1278004193
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.19
- CADD 9.43
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available