P90T (p.Pro90Thr) variant of CSF1R (P07333)
P90T (p.Pro90Thr) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Hereditary diffuse leukoencephalopathy with spheroi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and published literature.
P90T (p.Pro90Thr) variant details
- p.Pro90Thr
- rs150475750
- ClinGen CA3507234
- cosmic curated COSV99640
- ClinVar RCV000371986
- Benign
- not specified; not provided; Hereditary diffuse leukoencephalopathy with spheroi
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- CADD 5.01
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Benign (not specified; not provided; Hereditary diffuse leukoencephalopa)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Cited in: CSF1R-Related Disorder. (PMID 22934315)
- Cited in: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on… (PMID 29122458)