R24L (p.Arg24Leu) variant of CEBPE (Q15744)
R24L (p.Arg24Leu) in CEBPE (Q15744) 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 0.13 / 1. The record also includes structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- ExAC rs747068325
- TOPMed rs747068325
- gnomAD rs747068325
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.07
- MetaSVM -1.08
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available