I127S (p.Ile127Ser) variant of AQP3 (Aquaporin-3)
I127S (p.Ile127Ser) in AQP3 (Aquaporin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I127S (p.Ile127Ser) variant details
- p.Ile127Ser
- gnomAD 9-33442964-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available