G54V (p.Gly54Val) variant of AQP5 (Aquaporin-5)
G54V (p.Gly54Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- gnomAD 12-49962178-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.52
- CADD 22.20
- PolyPhen-2 0.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available