P34L (p.Pro34Leu) variant of CSF1R (P07333)
P34L (p.Pro34Leu) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- TOPMed rs1381683092
- gnomAD rs1381683092
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 22.90
- PolyPhen-2 0.68
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)