P22L (p.Pro22Leu) variant of CRBN (Protein cereblon)
P22L (p.Pro22Leu) in CRBN (Protein cereblon) is a missense change. 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.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- ExAC rs760313831
- TOPMed rs760313831
- gnomAD rs760313831
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.26
- CADD 29.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.0018)
- Structural context available