T4920P (p.Thr4920Pro) variant of RYR1 (Ryanodine receptor 1)
T4920P (p.Thr4920Pro) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Central core myopathy.
T4920P (p.Thr4920Pro) variant details
- p.Thr4920Pro
- Ensembl rs1599674443
- Likely pathogenic
- Central core myopathy
- Missense
- ClinVar: Likely pathogenic (Central core myopathy)
- UniProt: Likely pathogenic