L35R (p.Leu35Arg) variant of AVPR2 (Vasopressin V2 receptor)
L35R (p.Leu35Arg) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L35R (p.Leu35Arg) variant details
- p.Leu35Arg
- gnomAD rs1557100443
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 9.73
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available