A58T (p.Ala58Thr) variant of AQP2 (Aquaporin-2)
A58T (p.Ala58Thr) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- ESP rs145685755
- ExAC rs145685755
- TOPMed rs145685755
- gnomAD rs145685755
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.12
- CADD 3.88
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available