P43L (p.Pro43Leu) variant of CEBPA (P49715)
P43L (p.Pro43Leu) in CEBPA (P49715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- Ensembl rs2145264319
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.03
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.71
- Population evidence available
- Structural context available