H70Q (p.His70Gln) variant of AVPR2 (Vasopressin V2 receptor)
H70Q (p.His70Gln) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H70Q (p.His70Gln) variant details
- p.His70Gln
- TOPMed rs2064959317
- gnomAD rs2064959317
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.71
- Population evidence available
- Structural context available