H54Q (p.His54Gln) variant of CSF3R (Q99062)
H54Q (p.His54Gln) in CSF3R (Q99062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H54Q (p.His54Gln) variant details
- p.His54Gln
- ExAC rs747575947
- gnomAD rs747575947
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.13
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available