F37L (p.Phe37Leu) variant of TMEM43 (Transmembrane protein 43)
F37L (p.Phe37Leu) 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 0.27 / 1. The record also includes published literature and structural context.
F37L (p.Phe37Leu) variant details
- p.Phe37Leu
- rs1695064937
- ClinGen CA351534354
- ClinVar RCV001188491
- Ensembl rs1695064937
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- AlphaMissense 0.38
- MetaLR 0.03
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.05
- 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)