R35G (p.Arg35Gly) variant of CEBPA (P49715)
R35G (p.Arg35Gly) 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 0.34 / 1. The record also includes population frequency data and structural context.
R35G (p.Arg35Gly) variant details
- p.Arg35Gly
- gnomAD rs1238054852
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.14
- AlphaMissense 0.16
- MetaLR 0.13
- MetaSVM -1.10
- CADD 24.40
- PolyPhen-2 1.00
- 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