K33E (p.Lys33Glu) variant of RYR1 (Ryanodine receptor 1)
K33E (p.Lys33Glu) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in KDS. The record also includes variant effect predictions and published literature.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- rs193922746
- ClinGen CA025005
- ClinVar RCV000049252
- ClinVar RCV000119774
- Pathogenic
- in KDS
- Missense
- AlphaMissense 0.90
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- EBI: Pathogenic (in KDS)
- UniProt: Pathogenic (in KDS)
- Cited in: King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. (PMID 18765655)
- Cited in: King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. (PMID 21514828)