A119T (p.Ala119Thr) variant of CSF3R (Q99062)
A119T (p.Ala119Thr) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A119T (p.Ala119Thr) variant details
- p.Ala119Thr
- rs142999683
- ClinGen CA769508
- cosmic curated COSV58969
- ClinVar RCV000685892
- Uncertain significance
- Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.49
- AlphaMissense 0.18
- MetaLR 0.74
- MetaSVM 0.32
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary neutrophilia; Autosomal recessive severe congenital n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available