R46H (p.Arg46His) variant of RYR3 (Ryanodine receptor 3)
R46H (p.Arg46His) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Epileptic encephalopathy. The record also includes variant effect predictions and population frequency data.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs774050928
- ClinGen CA7457702
- NCI-TCGA Cosmic COSV6677
- cosmic curated COSV66776
- Uncertain significance
- not specified; Epileptic encephalopathy
- Missense
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)