E664V (p.Glu664Val) variant of CSF1R (P07333)
E664V (p.Glu664Val) in CSF1R (P07333) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Leukoencephalopathy, diffuse hereditary, with spheroids 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
E664V (p.Glu664Val) variant details
- p.Glu664Val
- ExAC rs746687451
- gnomAD rs746687451
- Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1)
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)