D56N (p.Asp56Asn) variant of CSF3R (Q99062)
D56N (p.Asp56Asn) 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 0.21 / 1. The record also includes population frequency data and structural context.
D56N (p.Asp56Asn) variant details
- p.Asp56Asn
- 1000Genomes rs199552713
- ExAC rs199552713
- TOPMed rs199552713
- gnomAD rs199552713
- Uncertain significance
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.12
- CADD 14.50
- PolyPhen-2 0.09
- SIFT 0.09
- ClinVar: Uncertain significance (Autosomal recessive severe congenital neutropenia due to CSF3R d)
- UniProt: Uncertain significance
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available