R28Q (p.Arg28Gln) variant of TMEM43 (Transmembrane protein 43)
R28Q (p.Arg28Gln) 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 Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- rs757651177
- ClinGen CA055775
- ClinVar RCV000550780
- ClinVar RCV000786222
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.17
- AlphaMissense 0.98
- MetaLR 0.33
- MetaSVM -0.29
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss mus)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00025)
- 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)