T74S (p.Thr74Ser) variant of CEBPE (Q15744)
T74S (p.Thr74Ser) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T74S (p.Thr74Ser) variant details
- p.Thr74Ser
- ExAC rs763378339
- gnomAD rs763378339
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.01
- CADD 10.30
- Most common in the 1KG:CLM population (allele frequency 0.011)
- Structural context available