C78Y (p.Cys78Tyr) variant of CRBN (Protein cereblon)
C78Y (p.Cys78Tyr) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
C78Y (p.Cys78Tyr) variant details
- p.Cys78Tyr
- ExAC rs779756864
- gnomAD rs779756864
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.73
- SIFT 0.66
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available