A27V (p.Ala27Val) variant of CEBPB (P17676)
A27V (p.Ala27Val) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- TOPMed rs2081572501
- gnomAD rs2081572501
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.28
- CADD 26.90
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)