D52G (p.Asp52Gly) variant of MUTYH (Adenine DNA glycosylase)
D52G (p.Asp52Gly) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
D52G (p.Asp52Gly) variant details
- p.Asp52Gly
- rs786202523
- ClinGen CA013039
- ClinVar RCV000165370
- ClinVar RCV000985856
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.06
- MetaLR 0.58
- MetaSVM -0.37
- PolyPhen-2 0.01
- SIFT 0.13
- MutPred 0.26
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)