D84V (p.Asp84Val) variant of CEBPE (Q15744)
D84V (p.Asp84Val) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D84V (p.Asp84Val) variant details
- p.Asp84Val
- gnomAD 14-23118841-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.39
- MetaLR 0.05
- MetaSVM -1.10
- CADD 21.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available