G5V (p.Gly5Val) variant of CRBN (Protein cereblon)
G5V (p.Gly5Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99214
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.08
- CADD 22.20
- PolyPhen-2 0.21
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Structural context available