F148I (p.Phe148Ile) variant of TAFAZZIN (Q16635)
F148I (p.Phe148Ile) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-Methylglutaconic aciduria type 2. The record also includes published literature and structural context.
F148I (p.Phe148Ile) variant details
- p.Phe148Ile
- rs2522985442
- ClinGen CA415183724
- ClinVar RCV004786902
- Likely pathogenic
- 3-Methylglutaconic aciduria type 2
- Missense
- ClinVar: Likely pathogenic (3-Methylglutaconic aciduria type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)