S50G (p.Ser50Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S50G (p.Ser50Gly) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S50G (p.Ser50Gly) variant details
- p.Ser50Gly
- rs373164247
- ClinGen CA010476
- ClinVar RCV000035404
- ClinVar RCV000770384
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.07
- ESM-1b 0.26
- AlphaMissense 0.18
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)