D80N (p.Asp80Asn) variant of ADCY5 (Adenylate cyclase type 5)
D80N (p.Asp80Asn) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D80N (p.Asp80Asn) variant details
- p.Asp80Asn
- ExAC rs750872257
- TOPMed rs750872257
- gnomAD rs750872257
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.20
- MetaLR 0.22
- MetaSVM -0.90
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available