P322T (p.Pro322Thr) variant of AVPR2 (Vasopressin V2 receptor)
P322T (p.Pro322Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrogenic diabetes insipidus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P322T (p.Pro322Thr) variant details
- p.Pro322Thr
- rs2148515160
- ClinGen CA415110990
- ClinVar RCV002276249
- Ensembl rs2148515160
- Likely pathogenic
- Nephrogenic diabetes insipidus
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Nephrogenic diabetes insipidus)
- EBI: Likely pathogenic (in NDI1)
- UniProt: Likely pathogenic (in NDI1)
- Population evidence available
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)