L60P (p.Leu60Pro) variant of CSF1R (P07333)
L60P (p.Leu60Pro) in CSF1R (P07333) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
L60P (p.Leu60Pro) variant details
- p.Leu60Pro
- rs1308547474
- TOPMed rs1308547474
- gnomAD rs1308547474
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)