R3H (p.Arg3His) variant of CEBPB (P17676)
R3H (p.Arg3His) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- gnomAD rs1408002318
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.12
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available