E52K (p.Glu52Lys) variant of TAFAZZIN (Q16635)
E52K (p.Glu52Lys) in TAFAZZIN (Q16635) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 3-Methylglutaconic aciduria type 2; Caused by mutation in the tafa. 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.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- rs794729166
- ClinGen CA415179650
- NCI-TCGA Cosmic COSV5001
- cosmic curated COSV50010
- Uncertain significance
- not provided; 3-Methylglutaconic aciduria type 2; Caused by mutation in the tafa
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.26
- MetaLR 0.67
- MetaSVM 0.11
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; 3-Methylglutaconic aciduria type 2; Caused by muta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Barth Syndrome. (PMID 25299040)