M1I (p.Met1Ile) variant of RYR1 (Ryanodine receptor 1)
M1I (p.Met1Ile) 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 not provided.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2513928864
- ClinGen CA405668120
- ClinVar RCV003130465
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance