D76Y (p.Asp76Tyr) variant of CRBN (Protein cereblon)
D76Y (p.Asp76Tyr) in CRBN (Protein cereblon) 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 0.48 / 1. The record also includes population frequency data and structural context.
D76Y (p.Asp76Tyr) variant details
- p.Asp76Tyr
- ESP rs370224981
- ExAC rs370224981
- TOPMed rs370224981
- gnomAD rs370224981
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.38
- CADD 25.70
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KALASH population (allele frequency 0.14)
- Structural context available