C3304R (p.Cys3304Arg) variant of RYR1 (Ryanodine receptor 1)
C3304R (p.Cys3304Arg) 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.
C3304R (p.Cys3304Arg) variant details
- p.Cys3304Arg
- rs746935915
- ClinGen CA074340
- ClinVar RCV003335792
- ExAC rs746935915
- Likely pathogenic
- Central core myopathy
- Missense
- AlphaMissense 0.53
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Central core myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)