I48V (p.Ile48Val) variant of CSF3R (Q99062)
I48V (p.Ile48Val) 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; Inbor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- rs1047054210
- ClinGen CA20752034
- ClinVar RCV001960104
- ClinVar RCV004042094
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.16
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.29
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0011)
- 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)