G4935D (p.Gly4935Asp) variant of RYR1 (Ryanodine receptor 1)
G4935D (p.Gly4935Asp) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of King Denborough syndrome; Malignant hyperthermia, susceptibility to, 1; Central. The record also includes variant effect predictions and published literature.
G4935D (p.Gly4935Asp) variant details
- p.Gly4935Asp
- rs979090493
- ClinGen CA405692125
- ClinVar RCV003883301
- Pathogenic
- King Denborough syndrome; Malignant hyperthermia, susceptibility to, 1; Central
- Missense
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.67
- ClinVar: Pathogenic (King Denborough syndrome; Malignant hyperthermia, susceptibility)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)