L13R (p.Leu13Arg) variant of RYR1 (Ryanodine receptor 1)
L13R (p.Leu13Arg) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MHS1. The record also includes variant effect predictions and published literature.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- rs193922744
- ClinGen CA024414
- ClinVar RCV000119614
- ClinVar RCV001588945
- Pathogenic
- in MHS1
- Missense
- AlphaMissense 0.91
- MetaLR 0.98
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- EBI: Pathogenic (in MHS1)
- UniProt: Pathogenic (in MHS1)
- Cited in: Increasing the number of diagnostic mutations in malignant hyperthermia. (PMID 19191329)
- Cited in: Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia… (PMID 10051009)