C24G (p.Cys24Gly) variant of RYR2 (Ryanodine receptor 2)
C24G (p.Cys24Gly) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
C24G (p.Cys24Gly) variant details
- p.Cys24Gly
- rs1266360671
- ClinGen CA345654302
- ClinVar RCV002224356
- ClinVar RCV003308065
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.93
- MetaLR 0.93
- MetaSVM 0.48
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available