T20T (p.Thr20Thr) variant of AQP2 (Aquaporin-2)
T20T (p.Thr20Thr) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T20T (p.Thr20Thr) variant details
- p.Thr20Thr
- gnomAD 12-49950890-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0875
- CADD 0.97
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available