S4830P (p.Ser4830Pro) variant of RYR1 (Ryanodine receptor 1)
S4830P (p.Ser4830Pro) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RYR1-related myopathy. The record also includes variant effect predictions.
S4830P (p.Ser4830Pro) variant details
- p.Ser4830Pro
- rs1568604535
- ClinGen CA405687369
- ClinVar RCV002789973
- Likely pathogenic
- RYR1-related myopathy
- Missense
- AlphaMissense 0.80
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (RYR1-related myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic