N42K (p.Asn42Lys) variant of MUTYH (Adenine DNA glycosylase)
N42K (p.Asn42Lys) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N42K (p.Asn42Lys) variant details
- p.Asn42Lys
- rs200514222
- ClinGen CA340137040
- ClinVar RCV000640353
- ClinVar RCV004944040
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.09
- MetaLR 0.39
- MetaSVM -0.62
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.18
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Benign
- UniProt: 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)