E84A (p.Glu84Ala) variant of CSF3R (Q99062)
E84A (p.Glu84Ala) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E84A (p.Glu84Ala) variant details
- p.Glu84Ala
- rs565088221
- ClinGen CA769528
- ClinVar RCV002012274
- ClinVar RCV003481212
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.24
- CADD 10.90
- PolyPhen-2 0.15
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive severe congenital n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- 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)