F4921L (p.Phe4921Leu) variant of RYR1 (Ryanodine receptor 1)
F4921L (p.Phe4921Leu) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RYR1-related myopathy. The record also includes variant effect predictions and published literature.
F4921L (p.Phe4921Leu) variant details
- p.Phe4921Leu
- rs1974410266
- ClinGen CA405690891
- ClinVar RCV002271897
- ClinVar RCV003491067
- Pathogenic
- RYR1-related myopathy
- Missense
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic (RYR1-related myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)
- Cited in: Nonsyndromic Malignant Hyperthermia Susceptibility. (PMID 20301325)