S6C (p.Ser6Cys) variant of TMEM43 (Transmembrane protein 43)
S6C (p.Ser6Cys) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- rs756575126
- ClinGen CA052084
- ClinVar RCV002407871
- ClinVar RCV004007364
- Conflicting interpretations
- Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right ventricular dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.06
- CADD 23.40
- PolyPhen-2 0.63
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiomyopathy; Arrhythmogenic right v)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)