A20V (p.Ala20Val) variant of CEBPB (P17676)
A20V (p.Ala20Val) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- 1000Genomes rs377368819
- ESP rs377368819
- ExAC rs377368819
- TOPMed rs377368819
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.05
- CADD 25.40
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available