K29E (p.Lys29Glu) variant of RYR1 (Ryanodine receptor 1)
K29E (p.Lys29Glu) 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.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- rs1240489600
- ClinGen CA405671622
- ClinVar RCV001315872
- ClinVar RCV006548102
- Uncertain significance
- Missense
- REVEL 0.74
- MetaLR 0.90
- MetaSVM 0.97
- CADD 24.70
- PolyPhen-2 0.60
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)