S24A (p.Ser24Ala) variant of RYR1 (Ryanodine receptor 1)
S24A (p.Ser24Ala) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic.
S24A (p.Ser24Ala) variant details
- p.Ser24Ala
- rs2513956373
- ClinGen CA2739276805
- ClinVar RCV003758184
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic