L58W (p.Leu58Trp) variant of TMEM43 (Transmembrane protein 43)
L58W (p.Leu58Trp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
L58W (p.Leu58Trp) variant details
- p.Leu58Trp
- rs2124986873
- ClinGen CA351534499
- ClinVar RCV003533508
- Ensembl rs2124986873
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.52
- MetaLR 0.19
- MetaSVM -0.72
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)