R94L (p.Arg94Leu) variant of TAFAZZIN (Q16635)
R94L (p.Arg94Leu) 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 0.88 / 1. The record also includes published literature and structural context.
R94L (p.Arg94Leu) variant details
- p.Arg94Leu
- rs1060500044
- ClinGen CA16616656
- ClinVar RCV000471301
- TOPMed rs1060500044
- Pathogenic/Likely pathogenic
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic/Likely pathogenic (3-Methylglutaconic aciduria type 2)
- EBI: Pathogenic (in BTHS)
- UniProt: Pathogenic (in BTHS)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)