M115I (p.Met115Ile) variant of RYR1 (Ryanodine receptor 1)
M115I (p.Met115Ile) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RYR1-related myopathy.
M115I (p.Met115Ile) variant details
- p.Met115Ile
- rs2513971656
- ClinVar RCV004587642
- Likely pathogenic
- RYR1-related myopathy
- Missense
- ClinVar: Likely pathogenic (RYR1-related myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic