Q4203R (p.Gln4203Arg) variant of RYR1 (Ryanodine receptor 1)
Q4203R (p.Gln4203Arg) 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 Central core myopathy. The record also includes variant effect predictions, population frequency data, and published literature.
Q4203R (p.Gln4203Arg) variant details
- p.Gln4203Arg
- rs757438220
- ClinGen CA059149
- ClinVar RCV000494306
- ClinVar RCV001865542
- Likely pathogenic
- Central core myopathy
- Missense
- REVEL 0.85
- MetaLR 0.95
- MetaSVM 1.08
- CADD 29.50
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Central core myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)