V38M (p.Val38Met) variant of TMEM43 (Transmembrane protein 43)
V38M (p.Val38Met) 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 not specified; Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- rs977468112
- ClinGen CA351534361
- ClinVar RCV000642419
- ClinVar RCV001183065
- Uncertain significance
- not specified; Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.17
- CADD 25.40
- PolyPhen-2 0.64
- SIFT 0.08
- ClinVar: Uncertain significance (not specified; Arrhythmogenic right ventricular dysplasia 5; Car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)