R27K (p.Arg27Lys) variant of MUTYH (Adenine DNA glycosylase)
R27K (p.Arg27Lys) 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 Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- rs587782693
- ClinGen CA014346
- ClinVar RCV000132129
- ClinVar RCV000411408
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.53
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.35
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)