P19L (p.Pro19Leu) variant of CRBN (Protein cereblon)
P19L (p.Pro19Leu) 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.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD rs1343791001
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the HGDP:BIAKA population (allele frequency 0.068)
- Structural context available