R11G (p.Arg11Gly) variant of TMEM43 (Transmembrane protein 43)
R11G (p.Arg11Gly) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- rs201085402
- ClinGen CA052861
- ClinVar RCV001192071
- ClinVar RCV002307696
- Uncertain significance
- not provided; Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.12
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Cardiomyopathy; Arrhythmogenic right ventricular d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- 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)