C102R (p.Cys102Arg) variant of CSF3R (Q99062)
C102R (p.Cys102Arg) 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 0.70 / 1. The record also includes population frequency data and structural context.
C102R (p.Cys102Arg) variant details
- p.Cys102Arg
- ESP rs372702415
- ExAC rs372702415
- TOPMed rs372702415
- gnomAD rs372702415
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.61
- CADD 23.20
- PolyPhen-2 0.77
- SIFT 0.05
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available