M36K (p.Met36Lys) variant of TMEM43 (Transmembrane protein 43)
M36K (p.Met36Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M36K (p.Met36Lys) variant details
- p.Met36Lys
- rs1695064880
- ClinGen CA351534346
- ClinVar RCV001306723
- TOPMed rs1695064880
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)