C24F (p.Cys24Phe) variant of RYR2 (Ryanodine receptor 2)
C24F (p.Cys24Phe) 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 0.86 / 1. The record also includes population frequency data and structural context.
C24F (p.Cys24Phe) variant details
- p.Cys24Phe
- TOPMed rs1487597802
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available