Q2R (p.Gln2Arg) variant of CEBPB (P17676)
Q2R (p.Gln2Arg) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- gnomAD 20-50191038-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.04
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available