G2A (p.Gly2Ala) variant of RYR1 (Ryanodine receptor 1)
G2A (p.Gly2Ala) 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.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- rs886054378
- ClinGen CA10642691
- ClinVar RCV000324922
- ClinVar RCV000331806
- Uncertain significance
- Missense
- AlphaMissense 0.15
- MetaLR 0.76
- MetaSVM 0.24
- PolyPhen-2 0.56
- SIFT 0.12
- MutPred 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)