G53E (p.Gly53Glu) variant of MUTYH (Adenine DNA glycosylase)
G53E (p.Gly53Glu) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- rs587781374
- ClinGen CA011699
- ClinVar RCV000165078
- ClinVar RCV000197171
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 13.60
- PolyPhen-2 0.14
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; not speci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 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)