A12S (p.Ala12Ser) variant of AQP2 (Aquaporin-2)
A12S (p.Ala12Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 12-49950864-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.73
- CADD 26.20
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available