D33N (p.Asp33Asn) variant of AVPR2 (Vasopressin V2 receptor)
D33N (p.Asp33Asn) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- TOPMed rs1338243434
- gnomAD rs1338243434
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 8.71
- PolyPhen-2 0.04
- SIFT 0.11
- Population evidence available
- Structural context available