R64W (p.Arg64Trp) variant of AVPR2 (Vasopressin V2 receptor)
R64W (p.Arg64Trp) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- rs150351033
- ClinGen CA10554968
- cosmic curated COSV61686
- ClinVar RCV000889333
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 22.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs150351033)
- UniProt: Likely benign (in dbSNP:rs150351033)
- Population evidence available
- Structural context available