S44N (p.Ser44Asn) variant of MUTYH (Adenine DNA glycosylase)
S44N (p.Ser44Asn) 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 not provided; Hereditary cancer-predisposing syndrome; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
S44N (p.Ser44Asn) variant details
- p.Ser44Asn
- rs876659408
- ClinGen CA10577749
- cosmic curated COSV62743
- ClinVar RCV000216955
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM -0.38
- PolyPhen-2 0.31
- SIFT 0.02
- MutPred 0.19
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)