P72A (p.Pro72Ala) variant of CEBPE (Q15744)
P72A (p.Pro72Ala) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P72A (p.Pro72Ala) variant details
- p.Pro72Ala
- gnomAD 14-23118878-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -0.99
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available