E48* (p.Glu48Ter) variant of TAFAZZIN (Q16635)
E48* (p.Glu48Ter) in TAFAZZIN (Q16635) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- gnomAD X-154412118-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available