R3L (p.Arg3Leu) variant of CEBPB (P17676)
R3L (p.Arg3Leu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- gnomAD 20-50191041-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.20
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available