T75I (p.Thr75Ile) variant of CSF1R (P07333)
T75I (p.Thr75Ile) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary diffuse leukoencephalopathy with spheroids; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
T75I (p.Thr75Ile) variant details
- p.Thr75Ile
- rs748096324
- ClinGen CA3507247
- ClinVar RCV000351143
- ClinVar RCV000890096
- Benign/Likely benign
- Hereditary diffuse leukoencephalopathy with spheroids; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Benign/Likely benign (Hereditary diffuse leukoencephalopathy with spheroids; not provi)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- 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)