S18L (p.Ser18Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S18L (p.Ser18Leu) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- rs1320775536
- ClinGen CA380342020
- ClinVar RCV003532649
- TOPMed rs1320775536
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 25.20
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)