G110S (p.Gly110Ser) variant of MYH7 (Myosin-7)
G110S (p.Gly110Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G110S (p.Gly110Ser) variant details
- p.Gly110Ser
- rs763893822
- ClinGen CA036654
- ClinVar RCV001509449
- ClinVar RCV002324118
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.31
- MetaSVM -0.72
- CADD 20.80
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy; Cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)