V32G (p.Val32Gly) variant of CSF1R (P07333)
V32G (p.Val32Gly) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Hereditary diffuse leukoencephalopathy with spheroi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
V32G (p.Val32Gly) variant details
- p.Val32Gly
- rs56048668
- ClinGen CA3507281
- cosmic curated COSV53839
- ClinVar RCV000346339
- Benign/Likely benign
- not specified; not provided; Hereditary diffuse leukoencephalopathy with spheroi
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; not provided; Hereditary diffuse leukoencephalopa)
- EBI: Benign (in dbSNP:rs56048668)
- UniProt: Benign (in dbSNP:rs56048668)
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: CSF1R-Related Disorder. (PMID 22934315)