E55* (p.Glu55Ter) variant of TAFAZZIN (Q16635)
E55* (p.Glu55Ter) in TAFAZZIN (Q16635) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E55* (p.Glu55Ter) variant details
- p.Glu55Ter
- rs2522924351
- ClinGen CA415179696
- ClinVar RCV003237272
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)