L1723P (p.Leu1723Pro) variant of MYH7 (Myosin-7)
L1723P (p.Leu1723Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Myosin storage myopathy. The record also includes structural context.
L1723P (p.Leu1723Pro) variant details
- p.Leu1723Pro
- rs2502241335
- ClinVar RCV004587628
- Likely pathogenic
- Myosin storage myopathy
- Missense
- ClinVar: Likely pathogenic (Myosin storage myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available