H13R (p.His13Arg) variant of AVPR2 (Vasopressin V2 receptor)
H13R (p.His13Arg) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
H13R (p.His13Arg) variant details
- p.His13Arg
- gnomAD X-153905544-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 0.76
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Literature evidence available