E59G (p.Glu59Gly) variant of ASH1L (Q9NR48)
E59G (p.Glu59Gly) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Intellectual disability. The record also includes variant effect predictions, population frequency data, and published literature.
E59G (p.Glu59Gly) variant details
- p.Glu59Gly
- rs1204718205
- ClinGen CA342715427
- ClinVar RCV001252152
- gnomAD rs1204718205
- Likely benign
- Intellectual disability
- Missense
- REVEL 0.25
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Likely benign (Intellectual disability)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)