A70S (p.Ala70Ser) variant of ADCY5 (Adenylate cyclase type 5)
A70S (p.Ala70Ser) 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.
A70S (p.Ala70Ser) variant details
- p.Ala70Ser
- 1000Genomes rs559947047
- ExAC rs559947047
- TOPMed rs559947047
- gnomAD rs559947047
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.21
- MetaLR 0.18
- MetaSVM -0.88
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available