I53V (p.Ile53Val) variant of AQP5 (Aquaporin-5)
I53V (p.Ile53Val) 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.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- TOPMed rs1416410538
- gnomAD rs1416410538
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.29
- CADD 15.50
- PolyPhen-2 0.24
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available