K38N (p.Lys38Asn) variant of MUTYH (Adenine DNA glycosylase)
K38N (p.Lys38Asn) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- rs1645568780
- ClinGen CA340137085
- ClinVar RCV002829940
- TOPMed rs1645568780
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.14
- MetaLR 0.56
- MetaSVM -0.31
- PolyPhen-2 0.31
- SIFT 0.01
- MutPred 0.24
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- 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)