D80N (p.Asp80Asn) variant of CSF3R (Q99062)
D80N (p.Asp80Asn) in CSF3R (Q99062) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D80N (p.Asp80Asn) variant details
- p.Asp80Asn
- TOPMed rs1207837094
- gnomAD rs1207837094
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.22
- AlphaMissense 0.15
- MetaLR 0.75
- MetaSVM -0.41
- CADD 11.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available