W7* (p.Trp7Ter) variant of PRKAA1 (Q13131)
W7* (p.Trp7Ter) in PRKAA1 (Q13131) is a protein-truncating change. 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.
W7* (p.Trp7Ter) variant details
- p.Trp7Ter
- 1000Genomes rs551347552
- ExAC rs551347552
- TOPMed rs551347552
- gnomAD rs551347552
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 37.00
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available