A56T (p.Ala56Thr) variant of MUTYH (Adenine DNA glycosylase)
A56T (p.Ala56Thr) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs1570447125
- ClinGen CA340136808
- ClinVar RCV003613554
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- AlphaMissense 0.05
- MetaLR 0.03
- MetaSVM -1.04
- CADD 0.69
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- 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)