N367I (p.Asn367Ile) variant of CRBN (Protein cereblon)
N367I (p.Asn367Ile) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple myeloma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
N367I (p.Asn367Ile) variant details
- p.Asn367Ile
- rs1575079076
- ClinGen CA351450885
- ClinVar RCV000984098
- Ensembl rs1575079076
- Likely pathogenic
- Multiple myeloma
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.93
- MetaLR 0.47
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- ClinVar: Likely pathogenic (Multiple myeloma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available