S171R (p.Ser171Arg) variant of AVPR2 (Vasopressin V2 receptor)
S171R (p.Ser171Arg) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature.
S171R (p.Ser171Arg) variant details
- p.Ser171Arg
- rs782601647
- ClinGen CA415106741
- ClinVar RCV001251483
- ClinVar RCV002570453
- Pathogenic/Likely pathogenic
- not provided; Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.99
- MetaLR 0.33
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (not provided; Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)