C24R (p.Cys24Arg) variant of RYR2 (Ryanodine receptor 2)
C24R (p.Cys24Arg) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C24R (p.Cys24Arg) variant details
- p.Cys24Arg
- cosmic curated COSV10592
- gnomAD rs1266360671
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available