D80Y (p.Asp80Tyr) variant of ADCY5 (Adenylate cyclase type 5)
D80Y (p.Asp80Tyr) 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 0.36 / 1. The record also includes population frequency data and structural context.
D80Y (p.Asp80Tyr) variant details
- p.Asp80Tyr
- ExAC rs750872257
- TOPMed rs750872257
- gnomAD rs750872257
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.26
- MetaLR 0.23
- MetaSVM -0.81
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available