S46P (p.Ser46Pro) variant of TMEM43 (Transmembrane protein 43)
S46P (p.Ser46Pro) 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 Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S46P (p.Ser46Pro) variant details
- p.Ser46Pro
- rs145510310
- ClinGen CA051850
- ClinVar RCV000227977
- ESP rs145510310
- Conflicting interpretations
- Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.37
- CADD 28.00
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic right ventricular dysplasia 5; Cardiovascular phe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)