R111Q (p.Arg111Gln) variant of CRBN (Protein cereblon)
R111Q (p.Arg111Gln) in CRBN (Protein cereblon) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R111Q (p.Arg111Gln) variant details
- p.Arg111Gln
- rs151127854
- cosmic curated COSV51639
- ESP rs151127854
- ExAC rs151127854
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.23
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- Structural context available