R36K (p.Arg36Lys) variant of MUTYH (Adenine DNA glycosylase)
R36K (p.Arg36Lys) 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; not specified; Familial adenomatous pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R36K (p.Arg36Lys) variant details
- p.Arg36Lys
- rs1376695165
- ClinGen CA340137112
- ClinVar RCV001009838
- ClinVar RCV001212107
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; Familial adenomatous pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.08
- MetaLR 0.56
- MetaSVM -0.54
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; Familial)
- 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)