R94H (p.Arg94His) variant of TAFAZZIN (Q16635)
R94H (p.Arg94His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R94H (p.Arg94His) variant details
- p.Arg94His
- rs1060500044
- ClinGen CA415180774
- ClinVar RCV000809073
- ClinVar RCV001091835
- Pathogenic/Likely pathogenic
- 3-Methylglutaconic aciduria type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-Methylglutaconic aciduria type 2; not provided)
- EBI: Pathogenic (in BTHS)
- UniProt: Pathogenic (in BTHS)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)