T618I (p.Thr618Ile) variant of CSF3R (Q99062)
T618I (p.Thr618Ile) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
T618I (p.Thr618Ile) variant details
- p.Thr618Ile
- rs796065343
- ClinGen CA204418
- cosmic curated COSV58963
- ClinVar RCV000190419
- Pathogenic/Likely pathogenic
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.63
- MetaLR 0.36
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)