H1901L (p.His1901Leu) variant of MYH7 (Myosin-7)
H1901L (p.His1901Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
H1901L (p.His1901Leu) variant details
- p.His1901Leu
- rs121913649
- ClinGen CA016379
- ClinVar RCV003320034
- UniProt VAR 042840
- Pathogenic
- Myosin storage myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.59
- MetaLR 0.68
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Myosin storage myopathy)
- EBI: Pathogenic (in CMYO7A)
- UniProt: Pathogenic (in CMYO7A)
- Structural context available
- Cited in: Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. (PMID 14663035)
- Cited in: Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. (PMID 15136674)