P17L (p.Pro17Leu) variant of AVPR2 (Vasopressin V2 receptor)
P17L (p.Pro17Leu) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- gnomAD X-153905556-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 5.24
- PolyPhen-2 0.00
- SIFT 0.77
- Population evidence available
- Literature evidence available