A797T (p.Ala797Thr) variant of MYH7 (Myosin-7)
A797T (p.Ala797Thr) 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 Cardiovascular phenotype; Myosin storage myopathy; Hypertrophic cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A797T (p.Ala797Thr) variant details
- p.Ala797Thr
- rs3218716
- ClinGen CA012268
- ClinVar RCV000035790
- ClinVar RCV000158532
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Myosin storage myopathy; Hypertrophic cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.59
- AlphaMissense 0.18
- MetaLR 0.68
- MetaSVM -0.16
- CADD 17.30
- PolyPhen-2 0.06
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Myosin storage myopathy; Hypertrophic)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of… (PMID 10521296)
- Cited in: Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. (PMID 15358028)