E52Q (p.Glu52Gln) variant of TAFAZZIN (Q16635)
E52Q (p.Glu52Gln) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-Methylglutaconic aciduria type 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E52Q (p.Glu52Gln) variant details
- p.Glu52Gln
- rs794729166
- ClinGen CA415179654
- ClinVar RCV003622338
- ClinVar RCV005495629
- Uncertain significance
- 3-Methylglutaconic aciduria type 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.26
- MetaLR 0.67
- MetaSVM 0.11
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.18
- ClinVar: Uncertain significance (3-Methylglutaconic aciduria type 2; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)