A823T (p.Ala823Thr) variant of CSF1R (P07333)
A823T (p.Ala823Thr) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary diffuse leukoencephalopathy with spheroids. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A823T (p.Ala823Thr) variant details
- p.Ala823Thr
- rs2113778666
- ClinGen CA361758573
- ClinVar RCV001823037
- Ensembl rs2113778666
- Likely pathogenic
- Hereditary diffuse leukoencephalopathy with spheroids
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Hereditary diffuse leukoencephalopathy with spheroids)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- 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)