I47M (p.Ile47Met) variant of CRBN (Protein cereblon)
I47M (p.Ile47Met) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I47M (p.Ile47Met) variant details
- p.Ile47Met
- ExAC rs753877802
- gnomAD rs753877802
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.14
- CADD 20.60
- PolyPhen-2 0.15
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 0.0018)
- Structural context available