P54L (p.Pro54Leu) variant of CRBN (Protein cereblon)
P54L (p.Pro54Leu) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- Ensembl rs1707780977
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.79
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.00021)
- Structural context available