L64W (p.Leu64Trp) variant of TMEM43 (Transmembrane protein 43)
L64W (p.Leu64Trp) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar 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 0.71 / 1. The record also includes population frequency data and structural context.
L64W (p.Leu64Trp) variant details
- p.Leu64Trp
- ExAC rs763469415
- gnomAD rs763469415
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.79
- MetaLR 0.58
- MetaSVM 0.33
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available