S64I (p.Ser64Ile) variant of AQP5 (Aquaporin-5)
S64I (p.Ser64Ile) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S64I (p.Ser64Ile) variant details
- p.Ser64Ile
- gnomAD 12-49962208-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.91
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available