C9R (p.Cys9Arg) variant of CEBPE (Q15744)
C9R (p.Cys9Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
C9R (p.Cys9Arg) variant details
- p.Cys9Arg
- gnomAD rs942911403
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.53
- MetaLR 0.03
- MetaSVM -1.06
- CADD 22.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available