P53L (p.Pro53Leu) variant of CSF1R (P07333)
P53L (p.Pro53Leu) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- rs777789969
- ClinGen CA3507269
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99643
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.96
- CADD 14.90
- PolyPhen-2 0.41
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)