G13V (p.Gly13Val) variant of CEBPE (Q15744)
G13V (p.Gly13Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- rs779313226
- ClinGen CA7111315
- ClinVar RCV002301152
- ExAC rs779313226
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.03
- CADD 13.90
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available