S21N (p.Ser21Asn) variant of AVPR2 (Vasopressin V2 receptor)
S21N (p.Ser21Asn) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S21N (p.Ser21Asn) variant details
- p.Ser21Asn
- gnomAD X-153905568-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 14.70
- PolyPhen-2 0.02
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available