T54I (p.Thr54Ile) variant of AQP2 (Aquaporin-2)
T54I (p.Thr54Ile) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- TOPMed rs1466275664
- gnomAD rs1466275664
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.81
- CADD 24.00
- PolyPhen-2 0.67
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available