A40D (p.Ala40Asp) variant of MUTYH (Adenine DNA glycosylase)
A40D (p.Ala40Asp) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A40D (p.Ala40Asp) variant details
- p.Ala40Asp
- rs1060501338
- ClinGen CA16610145
- cosmic curated COSV62743
- ClinVar RCV000475875
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.25
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- 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)