G40A (p.Gly40Ala) variant of RYR1 (Ryanodine receptor 1)
G40A (p.Gly40Ala) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in MHS1. The record also includes variant effect predictions and published literature.
G40A (p.Gly40Ala) variant details
- p.Gly40Ala
- rs2145320724
- ClinGen CA405671894
- ClinVar RCV001580408
- ClinVar RCV002476886
- Uncertain significance
- in MHS1
- Missense
- AlphaMissense 0.81
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.95
- EBI: Variant of uncertain significance (in MHS1)
- UniProt: Uncertain significance (in MHS1)
- Cited in: Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. (PMID 23558838)
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)