P19T (p.Pro19Thr) variant of CEBPB (P17676)
P19T (p.Pro19Thr) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- gnomAD 20-50191088-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.03
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available