H57Q (p.His57Gln) variant of CSF1R (P07333)
H57Q (p.His57Gln) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
H57Q (p.His57Gln) variant details
- p.His57Gln
- gnomAD rs1305733768
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 15.70
- PolyPhen-2 0.32
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)