R118H (p.Arg118His) variant of CSF3R (Q99062)
R118H (p.Arg118His) 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 0.14 / 1. The record also includes population frequency data and structural context.
R118H (p.Arg118His) variant details
- p.Arg118His
- rs923298829
- ClinGen CA20751661
- cosmic curated COSV58968
- ClinVar RCV000547476
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.16
- CADD 8.81
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available