L19M (p.Leu19Met) variant of AVPR2 (Vasopressin V2 receptor)
L19M (p.Leu19Met) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and published literature.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD X-153905561-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 5.01
- PolyPhen-2 0.06
- SIFT 0.22
- Population evidence available
- Literature evidence available