G66C (p.Gly66Cys) variant of AQP5 (Aquaporin-5)
G66C (p.Gly66Cys) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G66C (p.Gly66Cys) variant details
- p.Gly66Cys
- gnomAD 12-49962213-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.67
- CADD 25.60
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available