K16I (p.Lys16Ile) variant of TMEM43 (Transmembrane protein 43)
K16I (p.Lys16Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K16I (p.Lys16Ile) variant details
- p.Lys16Ile
- rs770619613
- ClinGen CA351534226
- ClinVar RCV000773325
- ClinVar RCV001869093
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.05
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)