T54T (p.Thr54Thr) variant of AQP2 (Aquaporin-2)
T54T (p.Thr54Thr) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T54T (p.Thr54Thr) variant details
- p.Thr54Thr
- rs143497314
- gnomAD 12-49950992-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 6.96
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available