D6H (p.Asp6His) variant of CRBN (Protein cereblon)
D6H (p.Asp6His) 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 0.34 / 1. The record also includes population frequency data and structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- rs756440147
- ClinGen CA2229442
- ClinVar RCV000502694
- ExAC rs756440147
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.14
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.8)
- Structural context available