R12K (p.Arg12Lys) variant of TMEM43 (Transmembrane protein 43)
R12K (p.Arg12Lys) 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 Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R12K (p.Arg12Lys) variant details
- p.Arg12Lys
- rs1559359985
- ClinGen CA351534197
- ClinVar RCV000774062
- ClinVar RCV005092268
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.05
- CADD 5.37
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-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)