S9G (p.Ser9Gly) variant of TMEM43 (Transmembrane protein 43)
S9G (p.Ser9Gly) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S9G (p.Ser9Gly) variant details
- p.Ser9Gly
- rs1054032061
- ClinGen CA69728522
- ClinVar RCV001191999
- ClinVar RCV004010557
- Likely benign
- Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.0902
- REVEL 0.01
- CADD 1.36
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Likely benign (Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 5)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)