G73S (p.Gly73Ser) variant of CSF3R (Q99062)
G73S (p.Gly73Ser) 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; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G73S (p.Gly73Ser) variant details
- p.Gly73Ser
- rs532250805
- ClinGen CA769536
- cosmic curated COSV58968
- ClinVar RCV003592671
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.17
- CADD 11.10
- PolyPhen-2 0.04
- SIFT 0.27
- 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 0.00041)
- Structural context available