P17S (p.Pro17Ser) variant of CEBPE (Q15744)
P17S (p.Pro17Ser) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- ExAC rs755622138
- gnomAD rs755622138
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.06
- MetaSVM -0.93
- CADD 20.70
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available