E39K (p.Glu39Lys) variant of RYR1 (Ryanodine receptor 1)
E39K (p.Glu39Lys) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- rs539201276
- ClinGen CA057347
- cosmic curated COSV62087
- ClinVar RCV000721244
- Uncertain significance
- Missense
- REVEL 0.85
- MetaLR 0.95
- MetaSVM 1.10
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)