S52G (p.Ser52Gly) variant of CRBN (Protein cereblon)
S52G (p.Ser52Gly) 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 0.49 / 1. The record also includes published literature and structural context.
S52G (p.Ser52Gly) variant details
- p.Ser52Gly
- rs1707781160
- ClinGen CA351453723
- ClinVar RCV002959343
- Ensembl rs1707781160
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.26
- MetaLR 0.39
- MetaSVM -0.31
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.62
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)