G66C (p.Gly66Cys) variant of AVPR2 (Vasopressin V2 receptor)
G66C (p.Gly66Cys) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G66C (p.Gly66Cys) variant details
- p.Gly66Cys
- gnomAD X-153905702-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available