P75T (p.Pro75Thr) variant of CEBPE (Q15744)
P75T (p.Pro75Thr) 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 0.22 / 1. The record also includes population frequency data and structural context.
P75T (p.Pro75Thr) variant details
- p.Pro75Thr
- rs148458866
- ClinGen CA7111260
- ClinVar RCV002235407
- ESP rs148458866
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.07
- CADD 18.80
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available