A31G (p.Ala31Gly) variant of AQP2 (Aquaporin-2)
A31G (p.Ala31Gly) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- TOPMed rs1304396038
- gnomAD rs1304396038
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.74
- CADD 24.90
- PolyPhen-2 0.65
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available