A54E (p.Ala54Glu) variant of RYR1 (Ryanodine receptor 1)
A54E (p.Ala54Glu) 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.
A54E (p.Ala54Glu) variant details
- p.Ala54Glu
- rs1032364286
- ClinGen CA405672261
- ClinVar RCV001360112
- ClinVar RCV002486507
- Uncertain significance
- Missense
- REVEL 0.78
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)