H54Y (p.His54Tyr) variant of CSF3R (Q99062)
H54Y (p.His54Tyr) 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; not provided; Autosomal recessive severe congenital neu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- rs371768579
- ClinGen CA769552
- ClinVar RCV000685186
- ClinVar RCV002531435
- Uncertain significance
- Inborn genetic diseases; not provided; Autosomal recessive severe congenital neu
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.28
- CADD 2.26
- PolyPhen-2 0.34
- SIFT 0.92
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Autosomal recessive sever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)