R28P (p.Arg28Pro) variant of TMEM43 (Transmembrane protein 43)
R28P (p.Arg28Pro) 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 0.51 / 1. The record also includes published literature and structural context.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- rs757651177
- ClinGen CA351534299
- ClinVar RCV001899283
- ExAC rs757651177
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.98
- MetaLR 0.33
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- 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)