P62L (p.Pro62Leu) variant of CEBPE (Q15744)
P62L (p.Pro62Leu) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- gnomAD 14-23118907-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.07
- ESM-1b 0.05
- AlphaMissense 0.16
- MetaLR 0.04
- MetaSVM -1.08
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available