R86Q (p.Arg86Gln) variant of CEBPE (Q15744)
R86Q (p.Arg86Gln) in CEBPE (Q15744) 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.
R86Q (p.Arg86Gln) variant details
- p.Arg86Gln
- ExAC rs767715396
- TOPMed rs767715396
- gnomAD rs767715396
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.05
- CADD 20.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available