L19P (p.Leu19Pro) variant of AVPR2 (Vasopressin V2 receptor)
L19P (p.Leu19Pro) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD X-153905562-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- CADD 9.97
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Literature evidence available