D74E (p.Asp74Glu) variant of TAFAZZIN (Q16635)
D74E (p.Asp74Glu) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 3-Methylglutaconic aciduria type 2. The record also includes published literature and structural context.
D74E (p.Asp74Glu) variant details
- p.Asp74Glu
- rs2522925157
- ClinGen CA415180172
- ClinVar RCV003512973
- ClinVar RCV005603835
- Uncertain significance
- not provided; 3-Methylglutaconic aciduria type 2
- Missense
- ClinVar: Uncertain significance (not provided; 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)