C6W (p.Cys6Trp) variant of AQP5 (Aquaporin-5)
C6W (p.Cys6Trp) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
C6W (p.Cys6Trp) variant details
- p.Cys6Trp
- ExAC rs747845858
- TOPMed rs747845858
- gnomAD rs747845858
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.35
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available