K47N (p.Lys47Asn) variant of MUTYH (Adenine DNA glycosylase)
K47N (p.Lys47Asn) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- rs375084663
- ClinGen CA340136975
- ClinVar RCV002255255
- ClinVar RCV003614093
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.19
- MetaLR 0.69
- MetaSVM -0.03
- PolyPhen-2 0.01
- SIFT 0.09
- MutPred 0.20
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Likely benign
- UniProt: Likely benign
- 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)