A8P (p.Ala8Pro) variant of AQP2 (Aquaporin-2)
A8P (p.Ala8Pro) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- gnomAD 12-49950852-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.35
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available