P39S (p.Pro39Ser) variant of CEBPA (P49715)
P39S (p.Pro39Ser) 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 0.33 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- Ensembl rs1967199149
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.04
- AlphaMissense 0.42
- MetaLR 0.23
- MetaSVM -0.70
- CADD 15.70
- PolyPhen-2 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available