I52T (p.Ile52Thr) variant of AQP2 (Aquaporin-2)
I52T (p.Ile52Thr) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- rs2137144293
- ClinGen CA384772013
- ClinVar RCV001580625
- Ensembl rs2137144293
- Uncertain significance
- Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.62
- CADD 22.00
- PolyPhen-2 0.55
- SIFT 0.28
- ClinVar: Uncertain significance (Diabetes insipidus, nephrogenic, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)