L45P (p.Leu45Pro) variant of RYR1 (Ryanodine receptor 1)
L45P (p.Leu45Pro) 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 Malignant hyperthermia, susceptibility to, 1; RYR1-related disorder. The record also includes variant effect predictions, population frequency data, and published literature.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- rs1217945877
- ClinGen CA405672003
- ClinVar RCV003758101
- ClinVar RCV006548751
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 1; RYR1-related disorder
- Missense
- REVEL 0.93
- MetaLR 0.95
- MetaSVM 1.08
- CADD 30.00
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 1; RYR1-related disor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)
- Cited in: Nonsyndromic Malignant Hyperthermia Susceptibility. (PMID 20301325)