A2P (p.Ala2Pro) variant of CRBN (Protein cereblon)
A2P (p.Ala2Pro) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD rs1156956523
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.15
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the HGDP:KALASH population (allele frequency 0.14)
- Structural context available