I68S (p.Ile68Ser) variant of AQP5 (Aquaporin-5)
I68S (p.Ile68Ser) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I68S (p.Ile68Ser) variant details
- p.Ile68Ser
- ExAC rs751297059
- gnomAD rs751297059
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.86
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available