K41R (p.Lys41Arg) variant of MUTYH (Adenine DNA glycosylase)
K41R (p.Lys41Arg) 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 Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
K41R (p.Lys41Arg) variant details
- p.Lys41Arg
- rs2524355850
- ClinGen CA340137055
- ClinVar RCV003614748
- ClinVar RCV005675279
- Uncertain significance
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- 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)