P90S (p.Pro90Ser) variant of CSF3R (Q99062)
P90S (p.Pro90Ser) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal recessive severe congenital neutropenia due to CSF3R deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P90S (p.Pro90Ser) variant details
- p.Pro90Ser
- cosmic curated COSV58967
- Ensembl rs2124136418
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.45
- CADD 23.90
- PolyPhen-2 0.68
- SIFT 0.05
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available