A61G (p.Ala61Gly) variant of TMEM43 (Transmembrane protein 43)
A61G (p.Ala61Gly) 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 Arrhythmogenic right ventricular dysplasia 5; Auditory neuropathy, autosomal dom. 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.
A61G (p.Ala61Gly) variant details
- p.Ala61Gly
- rs1225730180
- ClinGen CA351534520
- ClinVar RCV001190373
- ClinVar RCV001773442
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5; Auditory neuropathy, autosomal dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.18
- MetaLR 0.24
- MetaSVM -0.59
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5; Auditory neuropath)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)