R56H (p.Arg56His) variant of TMEM43 (Transmembrane protein 43)
R56H (p.Arg56His) 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 Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5; Cardiomy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R56H (p.Arg56His) variant details
- p.Arg56His
- rs747164382
- ClinGen CA052046
- ClinVar RCV001066708
- ClinVar RCV001180226
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5; Cardiomy
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.33
- MetaLR 0.20
- MetaSVM -0.66
- CADD 23.30
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00028)
- 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)