V83I (p.Val83Ile) variant of CRBN (Protein cereblon)
V83I (p.Val83Ile) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V83I (p.Val83Ile) variant details
- p.Val83Ile
- gnomAD rs1203528010
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.86
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available