R77H (p.Arg77His) variant of CSF3R (Q99062)
R77H (p.Arg77His) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R77H (p.Arg77His) variant details
- p.Arg77His
- rs761404285
- ClinGen CA769532
- cosmic curated COSV58968
- ClinVar RCV001981949
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- Missense
- Variant Prioritization Score for Impact Estimate 0.0989
- REVEL 0.11
- CADD 3.46
- PolyPhen-2 0.01
- SIFT 0.31
- 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
- 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)