S48C (p.Ser48Cys) variant of CEBPE (Q15744)
S48C (p.Ser48Cys) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- ESP rs369075679
- ExAC rs369075679
- gnomAD rs369075679
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.36
- MetaLR 0.11
- MetaSVM -0.90
- CADD 26.80
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available