L16M (p.Leu16Met) variant of AVPR2 (Vasopressin V2 receptor)
L16M (p.Leu16Met) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and published literature.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD X-153905552-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 0.54
- PolyPhen-2 0.09
- SIFT 0.22
- Population evidence available
- Literature evidence available