A2V (p.Ala2Val) variant of CRBN (Protein cereblon)
A2V (p.Ala2Val) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1707995715
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.16
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.19)
- Structural context available