L19P (p.Leu19Pro) variant of CEBPA (P49715)
L19P (p.Leu19Pro) in CEBPA (P49715) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- Ensembl rs1315626965
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.21
- AlphaMissense 0.30
- MetaLR 0.06
- MetaSVM -1.02
- CADD 23.30
- PolyPhen-2 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available