N42H (p.Asn42His) variant of MUTYH (Adenine DNA glycosylase)
N42H (p.Asn42His) 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 Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
N42H (p.Asn42His) variant details
- p.Asn42His
- rs2149187667
- ClinGen CA340137049
- ClinVar RCV001359734
- ClinVar RCV005682636
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.07
- MetaLR 0.44
- MetaSVM -0.48
- PolyPhen-2 0.10
- SIFT 0.08
- MutPred 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)