C103R (p.Cys103Arg) variant of TAFAZZIN (Q16635)
C103R (p.Cys103Arg) 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 0.96 / 1. The record also includes published literature and structural context.
C103R (p.Cys103Arg) variant details
- p.Cys103Arg
- rs397515740
- ClinGen CA261282
- ClinVar RCV000035089
- Ensembl rs397515740
- Likely pathogenic
- 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- 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)