L109P (p.Leu109Pro) variant of CSF3R (Q99062)
L109P (p.Leu109Pro) 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; not s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L109P (p.Leu109Pro) variant details
- p.Leu109Pro
- rs1290014200
- ClinGen CA339424709
- ClinVar RCV001819394
- ClinVar RCV003772300
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not s
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.11
- CADD 18.90
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available