A45G (p.Ala45Gly) variant of AQP2 (Aquaporin-2)
A45G (p.Ala45Gly) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- TOPMed rs1284823222
- gnomAD rs1284823222
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.74
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available