A42S (p.Ala42Ser) variant of TMEM43 (Transmembrane protein 43)
A42S (p.Ala42Ser) 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 0.29 / 1. The record also includes published literature and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- rs2124985701
- ClinGen CA351534386
- ClinVar RCV001924685
- Ensembl rs2124985701
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.06
- EVE 0.20
- 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)