L45F (p.Leu45Phe) variant of TMEM43 (Transmembrane protein 43)
L45F (p.Leu45Phe) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- rs1451474822
- ClinGen CA351534405
- NCI-TCGA Cosmic COSV5549
- NCI-TCGA Cosmic COSV9985
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.13
- CADD 18.90
- PolyPhen-2 0.19
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)