K33R (p.Lys33Arg) variant of RYR1 (Ryanodine receptor 1)
K33R (p.Lys33Arg) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RYR1-related disorder.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- rs2513956642
- ClinGen CA405671755
- ClinVar RCV003030533
- Uncertain significance
- RYR1-related disorder
- Missense
- ClinVar: Uncertain significance (RYR1-related disorder)
- EBI: Variant of uncertain significance (in KDS)
- UniProt: Uncertain significance (in KDS)