D32N (p.Asp32Asn) variant of CEBPE (Q15744)
D32N (p.Asp32Asn) in CEBPE (Q15744) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D32N (p.Asp32Asn) variant details
- p.Asp32Asn
- NCI-TCGA Cosmic COSV5282
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.04
- MetaSVM -1.05
- CADD 21.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SURUI population (allele frequency 0.21)
- Structural context available