A57S (p.Ala57Ser) variant of TMEM43 (Transmembrane protein 43)
A57S (p.Ala57Ser) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- rs151010429
- ClinGen CA052070
- ClinVar RCV001191659
- ClinVar RCV001359549
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.26
- MetaLR 0.11
- MetaSVM -1.06
- CADD 19.00
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 5; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)