A355T (p.Ala355Thr) variant of MYH7 (Myosin-7)
A355T (p.Ala355Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Myosin storage myopathy; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A355T (p.Ala355Thr) variant details
- p.Ala355Thr
- rs397516088
- ClinGen CA010133
- NCI-TCGA Cosmic COSV6251
- NCI-TCGA Cosmic COSV6252
- Pathogenic/Likely pathogenic
- Myosin storage myopathy; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.92
- AlphaMissense 0.12
- MetaLR 0.91
- MetaSVM 0.96
- CADD 24.70
- PolyPhen-2 0.26
- ClinVar: Pathogenic/Likely pathogenic (Myosin storage myopathy; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)