T20A (p.Thr20Ala) variant of AQP2 (Aquaporin-2)
T20A (p.Thr20Ala) 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, published literature, and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- gnomAD 12-49950888-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.89
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available