A781V (p.Ala781Val) variant of CSF1R (P07333)
A781V (p.Ala781Val) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary diffuse leukoencephalopathy with spheroids. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
A781V (p.Ala781Val) variant details
- p.Ala781Val
- rs587777247
- ClinGen CA346082
- NCI-TCGA Cosmic COSV5382
- NCI-TCGA Cosmic COSV5383
- Pathogenic
- not provided; Hereditary diffuse leukoencephalopathy with spheroids
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 0.84
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hereditary diffuse leukoencephalopathy with sphero)
- EBI: Pathogenic (in HDLS1)
- UniProt: Pathogenic (in HDLS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)