T85I (p.Thr85Ile) variant of CSF1R (P07333)
T85I (p.Thr85Ile) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
T85I (p.Thr85Ile) variant details
- p.Thr85Ile
- rs1758504424
- ClinVar RCV004576057
- TOPMed rs1758504424
- gnomAD rs1758504424
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 5.92
- PolyPhen-2 0.56
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)