D6N (p.Asp6Asn) variant of CRBN (Protein cereblon)
D6N (p.Asp6Asn) 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 0.32 / 1. The record also includes population frequency data and structural context.
D6N (p.Asp6Asn) variant details
- p.Asp6Asn
- ExAC rs756440147
- TOPMed rs756440147
- gnomAD rs756440147
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0018)
- Structural context available