H36R (p.His36Arg) variant of CEBPE (Q15744)
H36R (p.His36Arg) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
H36R (p.His36Arg) variant details
- p.His36Arg
- ExAC rs539403943
- gnomAD rs539403943
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.05
- MetaSVM -1.07
- CADD 23.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available