P11H (p.Pro11His) variant of AVPR2 (Vasopressin V2 receptor)
P11H (p.Pro11His) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- gnomAD X-153905538-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 13.00
- PolyPhen-2 0.40
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available