H73Q (p.His73Gln) variant of CRBN (Protein cereblon)
H73Q (p.His73Gln) in CRBN (Protein cereblon) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
H73Q (p.His73Gln) variant details
- p.His73Gln
- 1000Genomes rs1045309
- ESP rs1045309
- ExAC rs1045309
- TOPMed rs1045309
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.28
- CADD 8.73
- PolyPhen-2 0.99
- SIFT 0.26
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available