E57* (p.Glu57Ter) variant of MUTYH (Adenine DNA glycosylase)
E57* (p.Glu57Ter) in MUTYH (Adenine DNA glycosylase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- rs1557487793
- ClinGen CA340136796
- ClinVar RCV000706795
- ClinVar RCV004026730
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.80
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)