R44P (p.Arg44Pro) variant of RYR1 (Ryanodine receptor 1)
R44P (p.Arg44Pro) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RYR1-related disorder. The record also includes variant effect predictions and population frequency data.
R44P (p.Arg44Pro) variant details
- p.Arg44Pro
- rs139161723
- ClinGen CA405671989
- ClinVar RCV003757580
- ESP rs139161723
- Likely pathogenic
- RYR1-related disorder
- Missense
- REVEL 0.92
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (RYR1-related disorder)
- EBI: Pathogenic (in MHS1)
- UniProt: Pathogenic (in MHS1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)