W103* (p.Trp103Ter) variant of ADCY5 (Adenylate cyclase type 5)
W103* (p.Trp103Ter) in ADCY5 (Adenylate cyclase type 5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
W103* (p.Trp103Ter) variant details
- p.Trp103Ter
- TOPMed rs1945865120
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available