I40T (p.Ile40Thr) variant of CEBPE (Q15744)
I40T (p.Ile40Thr) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I40T (p.Ile40Thr) variant details
- p.Ile40Thr
- rs766049556
- ClinGen CA7111289
- ClinVar RCV001363488
- ClinVar RCV004036885
- Uncertain significance
- Specific granule deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.17
- MetaSVM -0.76
- CADD 26.80
- ClinVar: Uncertain significance (Specific granule deficiency; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)