L1481P (p.Leu1481Pro) variant of MYH7 (Myosin-7)
L1481P (p.Leu1481Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of MYH7-related skeletal myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L1481P (p.Leu1481Pro) variant details
- p.Leu1481Pro
- rs587779414
- ClinGen CA014988
- ClinVar RCV000132747
- Ensembl rs587779414
- Pathogenic
- MYH7-related skeletal myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (MYH7-related skeletal myopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Laing Distal Myopathy. (PMID 20301606)