T79M (p.Thr79Met) variant of CSF1R (P07333)
T79M (p.Thr79Met) 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 0.75 / 1. The record also includes population frequency data.
T79M (p.Thr79Met) variant details
- p.Thr79Met
- rs1414323194
- ClinGen CA361736159
- cosmic curated COSV53834
- ClinVar RCV003681464
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)