S18N (p.Ser18Asn) variant of AVPR2 (Vasopressin V2 receptor)
S18N (p.Ser18Asn) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and published literature.
S18N (p.Ser18Asn) variant details
- p.Ser18Asn
- gnomAD X-153905559-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 5.48
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Literature evidence available