D8E (p.Asp8Glu) variant of RYR1 (Ryanodine receptor 1)
D8E (p.Asp8Glu) 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.
D8E (p.Asp8Glu) variant details
- p.Asp8Glu
- rs1331891798
- ClinGen CA405668352
- ClinVar RCV001752845
- ClinVar RCV003388610
- Uncertain significance
- Missense
- REVEL 0.47
- MetaLR 0.68
- MetaSVM 0.05
- CADD 18.10
- PolyPhen-2 0.31
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)