R3S (p.Arg3Ser) variant of CEBPB (P17676)
R3S (p.Arg3Ser) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- gnomAD 20-50191040-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.13
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available