S358L (p.Ser358Leu) variant of TMEM43 (Transmembrane protein 43)
S358L (p.Ser358Leu) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S358L (p.Ser358Leu) variant details
- p.Ser358Leu
- rs63750743
- ClinGen CA024568
- NCI-TCGA Cosmic COSV5320
- ClinVar RCV000000770
- Pathogenic
- Cardiovascular phenotype; Familial isolated arrhythmogenic right ventricular dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.52
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Familial isolated arrhythmogenic right)
- EBI: Pathogenic (in ARVD5)
- UniProt: Pathogenic (in ARVD5)
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a… (PMID 18313022)
- Cited in: Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular… (PMID 21214875)