V48L (p.Val48Leu) variant of CSF1R (P07333)
V48L (p.Val48Leu) in CSF1R (P07333) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- TOPMed rs1256984931
- gnomAD rs1256984931
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 18.90
- PolyPhen-2 0.41
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)