N22K (p.Asn22Lys) variant of AVPR2 (Vasopressin V2 receptor)
N22K (p.Asn22Lys) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N22K (p.Asn22Lys) variant details
- p.Asn22Lys
- gnomAD X-153905572-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 20.20
- PolyPhen-2 0.26
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available