R60* (p.Arg60Ter) variant of PRKAA1 (Q13131)
R60* (p.Arg60Ter) in PRKAA1 (Q13131) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R60* (p.Arg60Ter) variant details
- p.Arg60Ter
- ExAC rs754248249
- gnomAD rs754248249
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available