Y5C (p.Tyr5Cys) variant of TMEM43 (Transmembrane protein 43)
Y5C (p.Tyr5Cys) 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 Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Y5C (p.Tyr5Cys) variant details
- p.Tyr5Cys
- rs753209951
- ClinGen CA051888
- ClinVar RCV002389889
- ClinVar RCV003095243
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- CADD 24.70
- PolyPhen-2 0.63
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.8e-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)