F37C (p.Phe37Cys) variant of TMEM43 (Transmembrane protein 43)
F37C (p.Phe37Cys) 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; Cardiomyopathy; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F37C (p.Phe37Cys) variant details
- p.Phe37Cys
- rs1695064977
- ClinGen CA351534357
- ClinVar RCV001188794
- ClinVar RCV001365235
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.19
- CADD 25.10
- PolyPhen-2 0.63
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right v)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)