E52* (p.Glu52Ter) variant of TAFAZZIN (Q16635)
E52* (p.Glu52Ter) in TAFAZZIN (Q16635) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- rs794729166
- ClinGen CA308797
- ClinVar RCV000183906
- ClinVar RCV005089930
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.26
- MetaLR 0.67
- MetaSVM 0.11
- PolyPhen-2 0.96
- SIFT 0.18
- EVE 0.12
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)