R68P (p.Arg68Pro) variant of AVPR2 (Vasopressin V2 receptor)
R68P (p.Arg68Pro) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R68P (p.Arg68Pro) variant details
- p.Arg68Pro
- 1000Genomes rs61733408
- ESP rs61733408
- ExAC rs61733408
- TOPMed rs61733408
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available