E32K (p.Glu32Lys) variant of CRBN (Protein cereblon)
E32K (p.Glu32Lys) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal recessive 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs1397046310
- ClinGen CA351453865
- ClinVar RCV003148307
- ClinVar RCV006342919
- Uncertain significance
- Intellectual disability, autosomal recessive 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.15
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.16
- ClinVar: Uncertain significance (Intellectual disability, autosomal recessive 2; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- 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)