Q37E (p.Gln37Glu) variant of MUTYH (Adenine DNA glycosylase)
Q37E (p.Gln37Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q37E (p.Gln37Glu) variant details
- p.Gln37Glu
- rs1270853129
- ClinGen CA340137106
- ClinVar RCV000640355
- ClinVar RCV002458050
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.06
- MetaLR 0.48
- MetaSVM -0.53
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.15
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)