A30S (p.Ala30Ser) variant of MUTYH (Adenine DNA glycosylase)
A30S (p.Ala30Ser) 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; Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- rs1557492581
- ClinGen CA340137150
- ClinVar RCV000702932
- ClinVar RCV002369941
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.09
- MetaLR 0.58
- MetaSVM -0.34
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.12
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- EBI: Benign
- UniProt: Benign
- 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)