P90L (p.Pro90Leu) variant of CSF1R (P07333)
P90L (p.Pro90Leu) 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 0.38 / 1. The record also includes population frequency data.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99641
- Ensembl rs1758503493
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 17.40
- PolyPhen-2 0.16
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)