A3G (p.Ala3Gly) variant of TMEM43 (Transmembrane protein 43)
A3G (p.Ala3Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- rs587780964
- ClinGen CA351533972
- ClinVar RCV004009879
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.17
- MetaLR 0.06
- MetaSVM -1.01
- PolyPhen-2 0.55
- SIFT 0.13
- MutPred 0.27
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)