R14W (p.Arg14Trp) variant of RYR1 (Ryanodine receptor 1)
R14W (p.Arg14Trp) 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; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- rs200665559
- ClinGen CA065548
- cosmic curated COSV10061
- ClinVar RCV003135857
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 1; not provided
- Missense
- REVEL 0.77
- MetaLR 0.95
- MetaSVM 1.15
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 1; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)