Y48C (p.Tyr48Cys) variant of TMEM43 (Transmembrane protein 43)
Y48C (p.Tyr48Cys) 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 not provided; TMEM43-related disorder; Arrhythmogenic right ventricular dysplasi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
Y48C (p.Tyr48Cys) variant details
- p.Tyr48Cys
- rs1553602871
- ClinGen CA351534427
- ClinVar RCV003394398
- ClinVar RCV005099992
- Uncertain significance
- not provided; TMEM43-related disorder; Arrhythmogenic right ventricular dysplasi
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.15
- MetaLR 0.13
- MetaSVM -0.99
- PolyPhen-2 0.99
- SIFT 0.26
- EVE 0.46
- ClinVar: Uncertain significance (not provided; TMEM43-related disorder; Arrhythmogenic right vent)
- 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)