A54V (p.Ala54Val) variant of RYR1 (Ryanodine receptor 1)
A54V (p.Ala54Val) 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.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs1032364286
- ClinGen CA308106844
- ClinVar RCV000734276
- ClinVar RCV006552820
- Uncertain significance
- Missense
- REVEL 0.72
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.20
- PolyPhen-2 0.90
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)