T79R (p.Thr79Arg) variant of CSF1R (P07333)
T79R (p.Thr79Arg) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
T79R (p.Thr79Arg) variant details
- p.Thr79Arg
- gnomAD rs1414323194
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)