H12Y (p.His12Tyr) variant of CRBN (Protein cereblon)
H12Y (p.His12Tyr) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H12Y (p.His12Tyr) variant details
- p.His12Tyr
- rs797045482
- ClinGen CA206671
- ClinVar RCV000193291
- TOPMed rs797045482
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.10
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KALASH population (allele frequency 0.14)
- Structural context available