N42S (p.Asn42Ser) variant of MUTYH (Adenine DNA glycosylase)
N42S (p.Asn42Ser) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N42S (p.Asn42Ser) variant details
- p.Asn42Ser
- rs563275223
- ClinGen CA012458
- ClinVar RCV000131452
- ClinVar RCV000824066
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.06
- MetaLR 0.28
- MetaSVM -0.60
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- 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)