K16R (p.Lys16Arg) variant of TMEM43 (Transmembrane protein 43)
K16R (p.Lys16Arg) 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; Cardiovascular phenotype; Cardiomy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- rs770619613
- ClinGen CA053903
- ClinVar RCV001188716
- ClinVar RCV002272405
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype; Cardiomy
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.04
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)