H12D (p.His12Asp) variant of CRBN (Protein cereblon)
H12D (p.His12Asp) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H12D (p.His12Asp) variant details
- p.His12Asp
- rs797045482
- ClinGen CA68735844
- ClinVar RCV002688072
- TOPMed rs797045482
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.04
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 1.00
- 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)