I67T (p.Ile67Thr) variant of AQP2 (Aquaporin-2)
I67T (p.Ile67Thr) 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 and structural context.
I67T (p.Ile67Thr) variant details
- p.Ile67Thr
- ExAC rs773903320
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.89
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available