R94S (p.Arg94Ser) variant of TAFAZZIN (Q16635)
R94S (p.Arg94Ser) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-Methylglutaconic aciduria type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R94S (p.Arg94Ser) variant details
- p.Arg94Ser
- rs104894942
- ClinGen CA255721
- ClinVar RCV000011859
- UniProt VAR 014110
- Pathogenic/Likely pathogenic
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (3-Methylglutaconic aciduria type 2)
- EBI: Pathogenic (in BTHS)
- UniProt: Pathogenic (in BTHS)
- Structural context available
- Cited in: Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. (PMID 12032589)
- Cited in: Identification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited… (PMID 29129703)