A15T (p.Ala15Thr) variant of AQP2 (Aquaporin-2)
A15T (p.Ala15Thr) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Diabetes insipidus, nephrogenic, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- ExAC rs762574510
- TOPMed rs762574510
- gnomAD rs762574510
- Uncertain significance
- not provided; Diabetes insipidus, nephrogenic, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.43
- CADD 18.90
- PolyPhen-2 0.33
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Diabetes insipidus, nephrogenic, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available