S13R (p.Ser13Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S13R (p.Ser13Arg) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- rs730880136
- ClinGen CA015006
- ClinVar RCV000157301
- gnomAD rs730880136
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.06
- ESM-1b 0.21
- AlphaMissense 0.46
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)