R67Q (p.Arg67Gln) variant of AVPR2 (Vasopressin V2 receptor)
R67Q (p.Arg67Gln) 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 Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R67Q (p.Arg67Gln) variant details
- p.Arg67Gln
- TOPMed rs1557100504
- gnomAD rs1557100504
- Uncertain significance
- Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 12.60
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Uncertain significance (Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available