V5L (p.Val5Leu) variant of CSF1R (P07333)
V5L (p.Val5Leu) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary diffuse leukoencephalopathy with spheroids. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and published literature.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- rs761624770
- ClinGen CA3507322
- ClinVar RCV000306661
- ExAC rs761624770
- Likely benign
- Hereditary diffuse leukoencephalopathy with spheroids
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 6.18
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Likely benign (Hereditary diffuse leukoencephalopathy with spheroids)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)