S21C (p.Ser21Cys) variant of TMEM43 (Transmembrane protein 43)
S21C (p.Ser21Cys) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S21C (p.Ser21Cys) variant details
- p.Ser21Cys
- rs794729183
- ClinGen CA351534258
- ClinVar RCV003600332
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- CADD 13.70
- PolyPhen-2 0.10
- SIFT 0.10
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)