H68R (p.His68Arg) variant of CRBN (Protein cereblon)
H68R (p.His68Arg) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H68R (p.His68Arg) variant details
- p.His68Arg
- rs1312427130
- ClinGen CA351453603
- ClinVar RCV004367171
- gnomAD rs1312427130
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.78
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.25)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)