F33L (p.Phe33Leu) variant of CEBPA (P49715)
F33L (p.Phe33Leu) in CEBPA (P49715) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- Ensembl rs2145264545
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.06
- AlphaMissense 0.26
- MetaLR 0.04
- MetaSVM -1.10
- CADD 23.20
- PolyPhen-2 0.65
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available