S52R (p.Ser52Arg) variant of RYR1 (Ryanodine receptor 1)
S52R (p.Ser52Arg) 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.
S52R (p.Ser52Arg) variant details
- p.Ser52Arg
- rs2145321042
- ClinGen CA405672185
- ClinVar RCV001893206
- Ensembl rs2145321042
- Uncertain significance
- Missense
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance