G56S (p.Gly56Ser) variant of MYH7 (Myosin-7)
G56S (p.Gly56Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYH7-related disorder; Cardiovascular phenotype; 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.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- rs759500431
- ClinGen CA029071
- ClinVar RCV001326401
- ClinVar RCV001776199
- Uncertain significance
- MYH7-related disorder; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.53
- AlphaMissense 0.09
- MetaLR 0.74
- MetaSVM 0.54
- CADD 21.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (MYH7-related disorder; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)