H54R (p.His54Arg) variant of CSF3R (Q99062)
H54R (p.His54Arg) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
H54R (p.His54Arg) variant details
- p.His54Arg
- ESP rs139917461
- TOPMed rs139917461
- gnomAD rs139917461
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.18
- CADD 6.29
- PolyPhen-2 0.06
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available