G186R (p.Gly186Arg) variant of TAFAZZIN (Q16635)
G186R (p.Gly186Arg) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 3-Methylglutaconic aciduria type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
G186R (p.Gly186Arg) variant details
- p.Gly186Arg
- rs1085307797
- ClinGen CA415184463
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10609
- Pathogenic/Likely pathogenic
- not provided; 3-Methylglutaconic aciduria type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.23
- PolyPhen-2 1.00
- MutPred 0.90
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3-Methylglutaconic aciduria type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)