A57T (p.Ala57Thr) variant of TMEM43 (Transmembrane protein 43)
A57T (p.Ala57Thr) 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; Auditory neuropathy, autosomal dom. 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.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- rs151010429
- ClinGen CA024618
- ClinVar RCV000074479
- ClinVar RCV000172115
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 5; Auditory neuropathy, autosomal dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.26
- MetaLR 0.11
- MetaSVM -1.06
- CADD 20.10
- PolyPhen-2 0.65
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 5; Auditory neuropath)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Cited in: TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. (PMID 23812740)
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)