S54A (p.Ser54Ala) variant of RYR3 (Ryanodine receptor 3)
S54A (p.Ser54Ala) 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 not specified; Epileptic encephalopathy. The record also includes variant effect predictions and population frequency data.
S54A (p.Ser54Ala) variant details
- p.Ser54Ala
- rs771903948
- ClinGen CA7457704
- ClinVar RCV000686918
- ClinVar RCV005268710
- Uncertain significance
- not specified; Epileptic encephalopathy
- Missense
- MetaLR 0.89
- MetaSVM 0.81
- CADD 24.20
- PolyPhen-2 0.63
- SIFT 0.40
- ClinVar: Uncertain significance (not specified; Epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)