K28R (p.Lys28Arg) variant of MUTYH (Adenine DNA glycosylase)
K28R (p.Lys28Arg) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- rs1553131499
- ClinGen CA340137163
- ClinVar RCV002434893
- ClinVar RCV005097230
- Conflicting interpretations
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.19
- MetaLR 0.78
- MetaSVM 0.15
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.34
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- 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)