I47V (p.Ile47Val) variant of CRBN (Protein cereblon)
I47V (p.Ile47Val) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I47V (p.Ile47Val) variant details
- p.Ile47Val
- Ensembl rs1707781639
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.11
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.26
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Structural context available