M1K (p.Met1Lys) variant of TMEM43 (Transmembrane protein 43)
M1K (p.Met1Lys) 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. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs765619239
- ClinGen CA052802
- ClinVar RCV001804294
- Uncertain significance
- Cardiomyopathy
- Missense
- MetaLR 0.14
- MetaSVM -0.91
- PolyPhen-2 0.72
- SIFT 0.00
- MutPred 0.65
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)