R44C (p.Arg44Cys) variant of RYR1 (Ryanodine receptor 1)
R44C (p.Arg44Cys) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MHS1. The record also includes variant effect predictions, population frequency data, and published literature.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs193922748
- ClinGen CA024034
- cosmic curated COSV62091
- ClinVar RCV000119473
- Pathogenic
- in MHS1
- Missense
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in MHS1)
- UniProt: Pathogenic (in MHS1)
- Most common in the South Asian population (allele frequency 0.00044)
- Cited in: Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant… (PMID 12709367)
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)