K18R (p.Lys18Arg) variant of TMEM43 (Transmembrane protein 43)
K18R (p.Lys18Arg) 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 Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- rs1214893591
- ClinGen CA351534238
- ClinVar RCV000701781
- ClinVar RCV001177158
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.02
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)