I22M (p.Ile22Met) variant of AQP4 (Aquaporin-4)
I22M (p.Ile22Met) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I22M (p.Ile22Met) variant details
- p.Ile22Met
- gnomAD rs1440335187
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.55
- CADD 23.40
- PolyPhen-2 0.90
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00011)
- Structural context available