H12N (p.His12Asn) variant of CRBN (Protein cereblon)
H12N (p.His12Asn) in CRBN (Protein cereblon) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H12N (p.His12Asn) variant details
- p.His12Asn
- TOPMed rs797045482
- gnomAD rs797045482
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available