D41G (p.Asp41Gly) variant of CEBPE (Q15744)
D41G (p.Asp41Gly) 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 0.54 / 1. The record also includes structural context.
D41G (p.Asp41Gly) variant details
- p.Asp41Gly
- rs2140292255
- ClinGen CA388953877
- ClinVar RCV002044138
- Ensembl rs2140292255
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.23
- MetaSVM -0.63
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available