Q52Q (p.Gln52Gln) variant of CEBPE (Q15744)
Q52Q (p.Gln52Gln) in CEBPE (Q15744) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q52Q (p.Gln52Gln) variant details
- p.Gln52Gln
- rs1347517629
- gnomAD 14-23118936-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 8.50
- Most common in the HGDP:BEDOUIN population (allele frequency 0.06)
- Structural context available
- Literature evidence available