G641A (p.Gly641Ala) variant of MYH7 (Myosin-7)
G641A (p.Gly641Ala) 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 Primary dilated cardiomyopathy; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
G641A (p.Gly641Ala) variant details
- p.Gly641Ala
- rs1555338080
- ClinGen CA389049527
- ClinVar RCV000599995
- ClinVar RCV001854146
- Pathogenic/Likely pathogenic
- Primary dilated cardiomyopathy; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.52
- MetaLR 0.74
- MetaSVM 0.42
- PolyPhen-2 1.00
- SIFT 0.18
- EVE 0.28
- ClinVar: Pathogenic/Likely pathogenic (Primary dilated cardiomyopathy; not provided; Hypertrophic cardi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)