P28S (p.Pro28Ser) variant of CSF1R (P07333)
P28S (p.Pro28Ser) in CSF1R (P07333) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- NCI-TCGA TCGA novel
- gnomAD rs1758517015
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 14.40
- PolyPhen-2 0.07
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)