E525K (p.Glu525Lys) variant of MYH7 (Myosin-7)
E525K (p.Glu525Lys) 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 Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
E525K (p.Glu525Lys) variant details
- p.Glu525Lys
- rs606231324
- ClinGen CA010981
- ClinVar RCV000148974
- ClinVar RCV000157356
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.91
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)