S9N (p.Ser9Asn) variant of MUTYH (Adenine DNA glycosylase)
S9N (p.Ser9Asn) 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 0.30 / 1. The record also includes published literature and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs1570591736
- ClinGen CA340137859
- ClinVar RCV000800108
- ClinVar RCV006552866
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.15
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.25
- 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)