R32Q (p.Arg32Gln) variant of AVPR2 (Vasopressin V2 receptor)
R32Q (p.Arg32Gln) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- cosmic curated COSV61686
- TOPMed rs1228462503
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available