G56A (p.Gly56Ala) variant of MYH7 (Myosin-7)
G56A (p.Gly56Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G56A (p.Gly56Ala) variant details
- p.Gly56Ala
- rs727504870
- ClinGen CA011120
- ClinVar RCV000156232
- ClinVar RCV001307082
- Uncertain significance
- not specified; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.82
- MetaSVM 0.76
- CADD 26.60
- ClinVar: Uncertain significance (not specified; Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)