R4893L (p.Arg4893Leu) variant of RYR1 (Ryanodine receptor 1)
R4893L (p.Arg4893Leu) 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 King Denborough syndrome; Central core myopathy; Malignant hyperthermia, suscept. The record also includes variant effect predictions, population frequency data, and published literature.
R4893L (p.Arg4893Leu) variant details
- p.Arg4893Leu
- rs118192151
- ClinGen CA405690254
- ClinVar RCV003591149
- ClinVar RCV005030121
- Likely pathogenic
- King Denborough syndrome; Central core myopathy; Malignant hyperthermia, suscept
- Missense
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (King Denborough syndrome; Central core myopathy; Malignant hyper)
- EBI: Likely pathogenic (in CMYO1A)
- UniProt: Likely pathogenic (in CMYO1A)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)