R44H (p.Arg44His) variant of RYR1 (Ryanodine receptor 1)
R44H (p.Arg44His) 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, population frequency data, and published literature.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs139161723
- ClinGen CA024037
- cosmic curated COSV62103
- ClinVar RCV000119474
- Pathogenic
- in MHS1
- Missense
- REVEL 0.93
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in MHS1)
- UniProt: Pathogenic (in MHS1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)