E57G (p.Glu57Gly) variant of MUTYH (Adenine DNA glycosylase)
E57G (p.Glu57Gly) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E57G (p.Glu57Gly) variant details
- p.Glu57Gly
- rs878854187
- ClinGen CA10581813
- ClinVar RCV000231159
- ClinVar RCV000567365
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.15
- SIFT 0.11
- MutPred 0.34
- 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)