C35R (p.Cys35Arg) variant of RYR1 (Ryanodine receptor 1)
C35R (p.Cys35Arg) 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.
C35R (p.Cys35Arg) variant details
- p.Cys35Arg
- rs193922747
- ClinGen CA023838
- ClinVar RCV000119411
- ClinVar RCV001588932
- Pathogenic
- in MHS1
- Missense
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in MHS1)
- UniProt: Pathogenic (in MHS1)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Cited in: Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant… (PMID 16163667)
- Cited in: Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core… (PMID 26115329)