S6C (p.Ser6Cys) variant of MUTYH (Adenine DNA glycosylase)
S6C (p.Ser6Cys) 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; not provided; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- rs587782837
- ClinGen CA10577754
- ClinVar RCV000214713
- ClinVar RCV000640357
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.07
- PolyPhen-2 0.68
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Familial)
- 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)