I62L (p.Ile62Leu) variant of AQP2 (Aquaporin-2)
I62L (p.Ile62Leu) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I62L (p.Ile62Leu) variant details
- p.Ile62Leu
- ExAC rs781600142
- gnomAD rs781600142
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.44
- CADD 0.25
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available