F41S (p.Phe41Ser) variant of RYR1 (Ryanodine receptor 1)
F41S (p.Phe41Ser) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
F41S (p.Phe41Ser) variant details
- p.Phe41Ser
- rs766407858
- ClinGen CA058692
- ClinVar RCV000544009
- ClinVar RCV000721268
- Pathogenic
- Missense
- REVEL 0.93
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.8e-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)