G3S (p.Gly3Ser) variant of CRBN (Protein cereblon)
G3S (p.Gly3Ser) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- rs757719993
- ClinGen CA2229446
- ClinVar RCV002737071
- ExAC rs757719993
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.07
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.19)
- 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)