V80L (p.Val80Leu) variant of CRBN (Protein cereblon)
V80L (p.Val80Leu) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V80L (p.Val80Leu) variant details
- p.Val80Leu
- TOPMed rs1202909740
- gnomAD rs1202909740
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.06
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Structural context available