E105* (p.Glu105Ter) variant of PRKAA1 (Q13131)
E105* (p.Glu105Ter) in PRKAA1 (Q13131) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E105* (p.Glu105Ter) variant details
- p.Glu105Ter
- ExAC rs759557332
- gnomAD rs759557332
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available