V56I (p.Val56Ile) variant of AQP2 (Aquaporin-2)
V56I (p.Val56Ile) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V56I (p.Val56Ile) variant details
- p.Val56Ile
- gnomAD rs1396199369
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.37
- CADD 23.00
- PolyPhen-2 0.59
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available