Q52K (p.Gln52Lys) variant of CEBPE (Q15744)
Q52K (p.Gln52Lys) in CEBPE (Q15744) is a missense change. 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.
Q52K (p.Gln52Lys) variant details
- p.Gln52Lys
- TOPMed rs1023588118
- gnomAD rs1023588118
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available