S47G (p.Ser47Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S47G (p.Ser47Gly) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- rs1267396024
- ClinGen CA380341854
- ClinVar RCV001184625
- gnomAD rs1267396024
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 9.80
- PolyPhen-2 0.35
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)