S50R (p.Ser50Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S50R (p.Ser50Arg) 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 not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- rs368918487
- ClinGen CA16613591
- ClinVar RCV000470523
- ClinVar RCV000619458
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0836
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.57
- CADD 0.00
- PolyPhen-2 0.33
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)