R68Q (p.Arg68Gln) variant of AVPR2 (Vasopressin V2 receptor)
R68Q (p.Arg68Gln) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R68Q (p.Arg68Gln) variant details
- p.Arg68Gln
- rs61733408
- ClinGen CA10554974
- ClinVar RCV000882812
- 1000Genomes rs61733408
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 23.00
- PolyPhen-2 0.50
- SIFT 0.05
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available