I22T (p.Ile22Thr) variant of AQP4 (Aquaporin-4)
I22T (p.Ile22Thr) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar, EBI, 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 0.61 / 1. The record also includes population frequency data and structural context.
I22T (p.Ile22Thr) variant details
- p.Ile22Thr
- ExAC rs757831249
- gnomAD rs757831249
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.68
- CADD 23.40
- PolyPhen-2 0.55
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available