Q2K (p.Gln2Lys) variant of CEBPB (P17676)
Q2K (p.Gln2Lys) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q2K (p.Gln2Lys) variant details
- p.Gln2Lys
- gnomAD 20-50191037-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.05
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available