P53S (p.Pro53Ser) variant of CSF1R (P07333)
P53S (p.Pro53Ser) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- TOPMed rs1433299442
- gnomAD rs1433299442
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 8.72
- PolyPhen-2 0.09
- SIFT 0.30
- Most common in the East Asian population (allele frequency 0.00019)