W58R (p.Trp58Arg) variant of CSF1R (P07333)
W58R (p.Trp58Arg) in CSF1R (P07333) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data.
W58R (p.Trp58Arg) variant details
- p.Trp58Arg
- ExAC rs767283490
- TOPMed rs767283490
- gnomAD rs767283490
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.41
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)