S32I (p.Ser32Ile) variant of MUTYH (Adenine DNA glycosylase)
S32I (p.Ser32Ile) 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 provided; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S32I (p.Ser32Ile) variant details
- p.Ser32Ile
- rs786202903
- ClinGen CA014723
- ClinVar RCV000165964
- ClinVar RCV000802392
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM -0.22
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.19
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)