I34V (p.Ile34Val) variant of AQP3 (Aquaporin-3)
I34V (p.Ile34Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I34V (p.Ile34Val) variant details
- p.Ile34Val
- ExAC rs780924525
- gnomAD rs780924525
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.31
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available