G80W (p.Gly80Trp) variant of CSF1R (P07333)
G80W (p.Gly80Trp) 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 0.50 / 1. The record also includes population frequency data.
G80W (p.Gly80Trp) variant details
- p.Gly80Trp
- rs2113833096
- ClinGen CA361736143
- ClinVar RCV002038874
- Ensembl rs2113833096
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 18.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)