A12T (p.Ala12Thr) variant of AQP2 (Aquaporin-2)
A12T (p.Ala12Thr) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- Ensembl rs1947323187
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.77
- CADD 27.50
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available