P14H (p.Pro14His) variant of AVPR2 (Vasopressin V2 receptor)
P14H (p.Pro14His) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
P14H (p.Pro14His) variant details
- p.Pro14His
- gnomAD X-153905547-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 1.42
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Literature evidence available