A38G (p.Ala38Gly) variant of RYR2 (Ryanodine receptor 2)
A38G (p.Ala38Gly) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- Ensembl rs1689579128
- Uncertain significance
- Missense
- MetaLR 0.83
- MetaSVM 0.65
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available