G55S (p.Gly55Ser) variant of TMEM43 (Transmembrane protein 43)
G55S (p.Gly55Ser) 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 0.60 / 1. The record also includes population frequency data and structural context.
G55S (p.Gly55Ser) variant details
- p.Gly55Ser
- TOPMed rs1695083151
- gnomAD rs1695083151
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.53
- MetaLR 0.32
- MetaSVM -0.45
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available