P75L (p.Pro75Leu) variant of CEBPE (Q15744)
P75L (p.Pro75Leu) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- gnomAD 14-23118868-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.05
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 0.00063)
- Structural context available
- Literature evidence available