Q2H (p.Gln2His) variant of CEBPB (P17676)
Q2H (p.Gln2His) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q2H (p.Gln2His) variant details
- p.Gln2His
- gnomAD 20-50191039-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.02
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available