Q15R (p.Gln15Arg) variant of CEBPE (Q15744)
Q15R (p.Gln15Arg) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q15R (p.Gln15Arg) variant details
- p.Gln15Arg
- ExAC rs753538611
- TOPMed rs753538611
- gnomAD rs753538611
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.08
- CADD 20.20
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available