D6Y (p.Asp6Tyr) variant of CRBN (Protein cereblon)
D6Y (p.Asp6Tyr) 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 0.34 / 1. The record also includes population frequency data and structural context.
D6Y (p.Asp6Tyr) variant details
- p.Asp6Tyr
- cosmic curated COSV51642
- ExAC rs756440147
- TOPMed rs756440147
- gnomAD rs756440147
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.08
- CADD 23.90
- PolyPhen-2 0.19
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available