L1646P (p.Leu1646Pro) variant of MYH7 (Myosin-7)
L1646P (p.Leu1646Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myosin storage myopathy; 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.
L1646P (p.Leu1646Pro) variant details
- p.Leu1646Pro
- rs587779393
- ClinGen CA015466
- ClinVar RCV000132754
- ClinVar RCV001348438
- Pathogenic
- Myosin storage myopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.98
- MetaLR 0.64
- MetaSVM 0.33
- PolyPhen-2 0.15
- SIFT 0.01
- EVE 0.80
- ClinVar: Pathogenic (Myosin storage myopathy; Hypertrophic cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Laing Distal Myopathy. (PMID 20301606)