R68W (p.Arg68Trp) variant of AVPR2 (Vasopressin V2 receptor)
R68W (p.Arg68Trp) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Diabetes insipidus, nephrogenic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R68W (p.Arg68Trp) variant details
- p.Arg68Trp
- rs782054894
- ClinGen CA10554973
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61686
- Uncertain significance
- not provided; Diabetes insipidus, nephrogenic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 21.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Diabetes insipidus, nephrogenic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available