R16K (p.Arg16Lys) variant of MUTYH (Adenine DNA glycosylase)
R16K (p.Arg16Lys) 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 0.43 / 1. The record also includes published literature and structural context.
R16K (p.Arg16Lys) variant details
- p.Arg16Lys
- rs1645586485
- ClinGen CA340137294
- ClinVar RCV003615398
- ClinVar RCV005687275
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.07
- MetaLR 0.42
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.25
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- 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)