H73L (p.His73Leu) variant of CRBN (Protein cereblon)
H73L (p.His73Leu) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
H73L (p.His73Leu) variant details
- p.His73Leu
- gnomAD rs1429956875
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.57
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 1.00
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.026)
- Structural context available