S44T (p.Ser44Thr) variant of MUTYH (Adenine DNA glycosylase)
S44T (p.Ser44Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
S44T (p.Ser44Thr) variant details
- p.Ser44Thr
- rs876659408
- ClinGen CA340137018
- ClinVar RCV004016745
- ClinVar RCV005669895
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- 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 (Hereditary cancer-predisposing syndrome)
- 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)