G66V (p.Gly66Val) variant of AQP5 (Aquaporin-5)
G66V (p.Gly66Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G66V (p.Gly66Val) variant details
- p.Gly66Val
- gnomAD 12-49962214-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.73
- CADD 20.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available