H13N (p.His13Asn) variant of AVPR2 (Vasopressin V2 receptor)
H13N (p.His13Asn) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
H13N (p.His13Asn) variant details
- p.His13Asn
- gnomAD X-153905543-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0763
- CADD 1.90
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Literature evidence available