G3D (p.Gly3Asp) variant of CRBN (Protein cereblon)
G3D (p.Gly3Asp) 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 0.25 / 1. The record also includes population frequency data and structural context.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- rs1183222102
- NCI-TCGA Cosmic COSV5164
- gnomAD rs1183222102
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.05
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.82
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.25)
- Structural context available