W17* (p.Trp17Ter) variant of TAFAZZIN (Q16635)
W17* (p.Trp17Ter) 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 0.94 / 1. The record also includes published literature and structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- rs1603376560
- ClinGen CA415178215
- ClinVar RCV003237270
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)