R38W (p.Arg38Trp) variant of AVPR2 (Vasopressin V2 receptor)
R38W (p.Arg38Trp) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- 1000Genomes rs781902048
- ExAC rs781902048
- TOPMed rs781902048
- gnomAD rs781902048
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 17.50
- PolyPhen-2 0.70
- SIFT 0.05
- Population evidence available
- Structural context available