G55D (p.Gly55Asp) variant of TMEM43 (Transmembrane protein 43)
G55D (p.Gly55Asp) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G55D (p.Gly55Asp) variant details
- p.Gly55Asp
- rs201453637
- ClinGen CA024614
- ClinVar RCV000172114
- ClinVar RCV000642435
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.54
- MetaLR 0.36
- MetaSVM -0.25
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.0019)
- 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)