R86W (p.Arg86Trp) variant of CEBPE (Q15744)
R86W (p.Arg86Trp) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Specific granule deficiency. 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.
R86W (p.Arg86Trp) variant details
- p.Arg86Trp
- rs773876082
- ClinGen CA257745193
- ClinVar RCV002021562
- TOPMed rs773876082
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.13
- ESM-1b 0.12
- AlphaMissense 0.19
- MetaLR 0.06
- MetaSVM -1.07
- CADD 22.80
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available