R46C (p.Arg46Cys) variant of RYR3 (Ryanodine receptor 3)
R46C (p.Arg46Cys) 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. The record also includes variant effect predictions and population frequency data.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs770423247
- ClinGen CA7457701
- NCI-TCGA Cosmic COSV6680
- cosmic curated COSV66808
- Uncertain significance
- not specified
- Missense
- MetaLR 0.96
- MetaSVM 1.08
- CADD 29.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)