M36I (p.Met36Ile) variant of TMEM43 (Transmembrane protein 43)
M36I (p.Met36Ile) 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 Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
M36I (p.Met36Ile) variant details
- p.Met36Ile
- rs1695064905
- ClinGen CA351534349
- ClinVar RCV001190070
- ClinVar RCV004010404
- Uncertain significance
- Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- AlphaMissense 0.72
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.04
- SIFT 0.47
- EVE 0.15
- ClinVar: Uncertain significance (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5; no)
- 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)