R65W (p.Arg65Trp) variant of AVPR2 (Vasopressin V2 receptor)
R65W (p.Arg65Trp) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Nephrogenic syndrome of inappropriate antidiuresis; Diabetes insipidus, nephroge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R65W (p.Arg65Trp) variant details
- p.Arg65Trp
- rs138019778
- ClinGen CA337263518
- cosmic curated COSV61685
- ClinVar RCV002789065
- Conflicting interpretations
- Nephrogenic syndrome of inappropriate antidiuresis; Diabetes insipidus, nephroge
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 22.90
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Nephrogenic syndrome of inappropriate antidiuresis; Diabetes ins)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)