R308C (p.Arg308Cys) variant of CSF3R (Q99062)
R308C (p.Arg308Cys) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Sever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R308C (p.Arg308Cys) variant details
- p.Arg308Cys
- rs606231473
- ClinGen CA174931
- cosmic curated COSV58969
- ClinVar RCV000149408
- Pathogenic/Likely pathogenic
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Sever
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.81
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- EBI: Pathogenic (in SCN7)
- UniProt: Pathogenic (in SCN7)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Inherited biallelic CSF3R mutations in severe congenital neutropenia. (PMID 24753537)
- Cited in: GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R… (PMID 26324699)