G124R (p.Gly124Arg) variant of TAFAZZIN (Q16635)
G124R (p.Gly124Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
G124R (p.Gly124Arg) variant details
- p.Gly124Arg
- rs1603377945
- ClinGen CA415182152
- ClinVar RCV002463259
- ClinVar RCV003103038
- Likely pathogenic
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.63
- MetaLR 0.37
- MetaSVM -0.19
- SIFT 0.02
- MutPred 0.66
- 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)