V38E (p.Val38Glu) variant of TMEM43 (Transmembrane protein 43)
V38E (p.Val38Glu) 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 0.44 / 1. The record also includes published literature and structural context.
V38E (p.Val38Glu) variant details
- p.Val38Glu
- rs1695065091
- ClinGen CA351534362
- ClinVar RCV001326651
- Ensembl rs1695065091
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.93
- MetaLR 0.18
- MetaSVM -0.71
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.64
- 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)