V218A (p.Val218Ala) variant of CEBPE (Q15744)
V218A (p.Val218Ala) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Specific granule deficiency 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
V218A (p.Val218Ala) variant details
- p.Val218Ala
- rs747524697
- ClinGen CA388952007
- ClinVar RCV001262447
- ClinVar RCV002285023
- Likely pathogenic
- Specific granule deficiency 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.68
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Specific granule deficiency 1)
- EBI: Pathogenic (in SGD1)
- UniProt: Pathogenic (in SGD1)
- Structural context available
- Cited in: Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a… (PMID 17244686)
- Cited in: CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome… (PMID 29651288)