K47R (p.Lys47Arg) variant of MUTYH (Adenine DNA glycosylase)
K47R (p.Lys47Arg) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- rs757260904
- ClinGen CA060270
- ClinVar RCV001179408
- ClinVar RCV004807341
- Conflicting interpretations
- Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.07
- MetaLR 0.62
- MetaSVM -0.20
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.14
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 2; Hereditary cancer-predisposing)
- 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)