Q52H (p.Gln52His) variant of CEBPE (Q15744)
Q52H (p.Gln52His) 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 0.25 / 1. The record also includes structural context.
Q52H (p.Gln52His) variant details
- p.Gln52His
- TOPMed rs1347517629
- gnomAD rs1347517629
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- ESM-1b 0.00
- AlphaMissense 0.32
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available