A70T (p.Ala70Thr) variant of ADCY5 (Adenylate cyclase type 5)
A70T (p.Ala70Thr) 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 0.27 / 1. The record also includes population frequency data and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- 1000Genomes rs559947047
- ExAC rs559947047
- TOPMed rs559947047
- gnomAD rs559947047
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.20
- MetaLR 0.24
- MetaSVM -0.78
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available