R12P (p.Arg12Pro) variant of CEBPE (Q15744)
R12P (p.Arg12Pro) in CEBPE (Q15744) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- 1000Genomes rs201106129
- ESP rs201106129
- ExAC rs201106129
- TOPMed rs201106129
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.08
- MetaSVM -0.94
- CADD 23.50
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available