E54D (p.Glu54Asp) variant of TMEM43 (Transmembrane protein 43)
E54D (p.Glu54Asp) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- rs746126153
- ClinGen CA051939
- ClinVar RCV001181195
- ClinVar RCV003600403
- Uncertain significance
- not provided; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.54
- CADD 35.00
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Arrhythmogenic right ventricular d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)