E44* (p.Glu44Ter) variant of SPTA1 (P02549)
E44* (p.Glu44Ter) in SPTA1 (P02549) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- TOPMed rs1655083877
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)