P59S (p.Pro59Ser) variant of RYR1 (Ryanodine receptor 1)
P59S (p.Pro59Ser) 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.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs1555762521
- ClinGen CA405673681
- ClinVar RCV000521583
- Ensembl rs1555762521
- Uncertain significance
- Missense
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance