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 0.60 / 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 0.598
- REVEL 0.52
- AlphaMissense 0.23
- MetaLR 0.82
- MetaSVM 0.76
- CADD 19.70
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (not specified; Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)