R24P (p.Arg24Pro) variant of CEBPE (Q15744)
R24P (p.Arg24Pro) 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 0.21 / 1. The record also includes population frequency data and structural context.
R24P (p.Arg24Pro) variant details
- p.Arg24Pro
- ExAC rs747068325
- TOPMed rs747068325
- gnomAD rs747068325
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.03
- CADD 17.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available