R56C (p.Arg56Cys) variant of TMEM43 (Transmembrane protein 43)
R56C (p.Arg56Cys) 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 not specified; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- rs201094625
- ClinGen CA052036
- ClinVar RCV000462660
- ClinVar RCV000519195
- Conflicting interpretations
- not specified; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.87
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)