H91R (p.His91Arg) variant of CSF3R (Q99062)
H91R (p.His91Arg) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H91R (p.His91Arg) variant details
- p.His91Arg
- rs148307285
- ClinGen CA769524
- ClinVar RCV000499844
- ClinVar RCV000798833
- Conflicting interpretations
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.18
- CADD 8.15
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)