L36V (p.Leu36Val) variant of AVPR2 (Vasopressin V2 receptor)
L36V (p.Leu36Val) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- gnomAD X-153905612-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 18.30
- PolyPhen-2 0.79
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available