G12R (p.Gly12Arg) variant of AVPR2 (Vasopressin V2 receptor)
G12R (p.Gly12Arg) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and published literature.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD X-153905540-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.061
- CADD 0.36
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Literature evidence available