L4I (p.Leu4Ile) variant of MUTYH (Adenine DNA glycosylase)
L4I (p.Leu4Ile) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2; not s. The record also includes published literature and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- rs1064794772
- ClinGen CA16617171
- ClinVar RCV000481735
- ClinVar RCV002376876
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2; not s
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: MUTYH Polyposis. (PMID 23035301)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)