T21N (p.Thr21Asn) variant of AQP5 (Aquaporin-5)
T21N (p.Thr21Asn) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T21N (p.Thr21Asn) variant details
- p.Thr21Asn
- gnomAD 12-49962079-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.89
- CADD 23.30
- PolyPhen-2 0.63
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available