G42D (p.Gly42Asp) variant of RYR1 (Ryanodine receptor 1)
G42D (p.Gly42Asp) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- rs1972639264
- ClinGen CA405671946
- ClinVar RCV001123153
- ClinVar RCV001123154
- Uncertain significance
- Missense
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)