A780V (p.Ala780Val) variant of CSF1R (P07333)
A780V (p.Ala780Val) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, 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 0.89 / 1. The record also includes published literature.
A780V (p.Ala780Val) variant details
- p.Ala780Val
- rs2113779595
- ClinGen CA361759023
- ClinVar RCV003994624
- Ensembl rs2113779595
- Likely pathogenic
- Leukoencephalopathy, diffuse hereditary, with spheroids 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.96
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.96
- ClinVar: Likely pathogenic (Leukoencephalopathy, diffuse hereditary, with spheroids 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: CSF1R-Related Disorder. (PMID 22934315)