p.Arg67 Gly69del variant of AVPR2 (Vasopressin V2 receptor)
p.Arg67 Gly69del in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg67 Gly69del variant details
- rs782292545
- gnomAD X-153905695-TCGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 12.20
- Population evidence available
- Structural context available
- Literature evidence available