V60L (p.Val60Leu) variant of CEBPE (Q15744)
V60L (p.Val60Leu) in CEBPE (Q15744) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- rs1376968968
- NCI-TCGA Cosmic COSV5282
- TOPMed rs1376968968
- gnomAD rs1376968968
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available