R65Q (p.Arg65Gln) variant of AVPR2 (Vasopressin V2 receptor)
R65Q (p.Arg65Gln) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. 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.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs782106562
- ExAC rs782106562
- TOPMed rs782106562
- gnomAD rs782106562
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Population evidence available
- Structural context available