N22D (p.Asn22Asp) variant of AVPR2 (Vasopressin V2 receptor)
N22D (p.Asn22Asp) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- gnomAD X-153905570-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 22.60
- PolyPhen-2 0.68
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available