A38S (p.Ala38Ser) variant of RYR1 (Ryanodine receptor 1)
A38S (p.Ala38Ser) 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.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- rs377558801
- ClinGen CA056699
- ClinVar RCV000544625
- ClinVar RCV006268864
- Uncertain significance
- Missense
- REVEL 0.50
- MetaLR 0.96
- MetaSVM 1.21
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)