I2167S (p.Ile2167Ser) variant of RYR1 (Ryanodine receptor 1)
I2167S (p.Ile2167Ser) 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 King Denborough syndrome.
I2167S (p.Ile2167Ser) variant details
- p.Ile2167Ser
- rs2514276377
- ClinGen CA405664331
- ClinVar RCV003152992
- Likely pathogenic
- King Denborough syndrome
- Missense
- ClinVar: Likely pathogenic (King Denborough syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic