G10A (p.Gly10Ala) variant of MYH7 (Myosin-7)
G10A (p.Gly10Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- rs730880826
- ClinGen CA013294
- ClinVar RCV000158720
- ClinVar RCV001366152
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.69
- MetaSVM 0.59
- CADD 23.40
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)