E68G (p.Glu68Gly) variant of CSF3R (Q99062)
E68G (p.Glu68Gly) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
E68G (p.Glu68Gly) variant details
- p.Glu68Gly
- rs2124136821
- ClinGen CA339424974
- ClinVar RCV001931340
- Ensembl rs2124136821
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.10
- MetaLR 0.42
- MetaSVM -0.57
- PolyPhen-2 0.05
- SIFT 0.07
- EVE 0.42
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available