A42V (p.Ala42Val) variant of AVPR2 (Vasopressin V2 receptor)
A42V (p.Ala42Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; not specified; Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- rs5198
- ClinGen CA10554950
- ClinVar RCV000274580
- ClinVar RCV000882981
- Benign
- not provided; not specified; Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 16.40
- PolyPhen-2 0.31
- SIFT 0.06
- ClinVar: Benign (not provided; not specified; Diabetes insipidus, nephrogenic, X-)
- EBI: Benign (in dbSNP:rs5198)
- UniProt: Benign (in dbSNP:rs5198)
- Population evidence available
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)