T37K (p.Thr37Lys) variant of CSF1R (P07333)
T37K (p.Thr37Lys) 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 0.06 / 1. The record also includes population frequency data.
T37K (p.Thr37Lys) variant details
- p.Thr37Lys
- 1000Genomes rs139635308
- ESP rs139635308
- ExAC rs139635308
- TOPMed rs139635308
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0645
- CADD 0.47
- PolyPhen-2 0.01
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)