S54L (p.Ser54Leu) variant of RYR3 (Ryanodine receptor 3)
S54L (p.Ser54Leu) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epileptic encephalopathy; Congenital myopathy 20. The record also includes variant effect predictions and population frequency data.
S54L (p.Ser54Leu) variant details
- p.Ser54Leu
- rs372207437
- ClinGen CA7457705
- ClinVar RCV001361822
- ClinVar RCV003761205
- Uncertain significance
- Epileptic encephalopathy; Congenital myopathy 20
- Missense
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.00
- PolyPhen-2 0.30
- SIFT 0.00
- ClinVar: Uncertain significance (Epileptic encephalopathy; Congenital myopathy 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.7e-05)