H94R (p.His94Arg) variant of CSF3R (Q99062)
H94R (p.His94Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
H94R (p.His94Arg) variant details
- p.His94Arg
- ESP rs374695394
- ExAC rs374695394
- TOPMed rs374695394
- gnomAD rs374695394
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.17
- CADD 4.01
- PolyPhen-2 0.01
- SIFT 0.75
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available