R11W (p.Arg11Trp) variant of TMEM43 (Transmembrane protein 43)
R11W (p.Arg11Trp) 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 provided; Cardiovascular phenotype; Arrhythmogenic right ventricular dysplas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- rs201085402
- ClinGen CA052872
- ClinVar RCV000774137
- ClinVar RCV001324439
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Arrhythmogenic right ventricular dysplas
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Arrhythmogenic right ven)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.01)
- 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)