S64N (p.Ser64Asn) variant of AQP5 (Aquaporin-5)
S64N (p.Ser64Asn) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- gnomAD 12-49962208-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.84
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available