R41P (p.Arg41Pro) variant of CSF1R (P07333)
R41P (p.Arg41Pro) 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 0.31 / 1. The record also includes population frequency data.
R41P (p.Arg41Pro) variant details
- p.Arg41Pro
- ExAC rs777239066
- TOPMed rs777239066
- gnomAD rs777239066
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)