C6F (p.Cys6Phe) variant of AQP5 (Aquaporin-5)
C6F (p.Cys6Phe) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C6F (p.Cys6Phe) variant details
- p.Cys6Phe
- gnomAD rs1359109751
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.22
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available