G36V (p.Gly36Val) variant of CEBPA (P49715)
G36V (p.Gly36Val) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- ExAC rs746522150
- TOPMed rs746522150
- gnomAD rs746522150
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available