I46T (p.Ile46Thr) variant of AVPR2 (Vasopressin V2 receptor)
I46T (p.Ile46Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- gnomAD rs104894759
- Uncertain significance
- Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -0.98
- CADD 6.86
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Uncertain significance (Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Population evidence available
- Structural context available