I23T (p.Ile23Thr) variant of CSF1R (P07333)
I23T (p.Ile23Thr) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- ExAC rs749946644
- gnomAD rs749946644
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)