E39G (p.Glu39Gly) variant of RYR1 (Ryanodine receptor 1)
E39G (p.Glu39Gly) 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 population frequency data.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- rs1600630863
- ClinGen CA405671867
- ClinVar RCV000996852
- Ensembl rs1600630863
- Uncertain significance
- Missense
- REVEL 0.87
- MetaLR 0.95
- MetaSVM 1.08
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)