I14M (p.Ile14Met) variant of MUTYH (Adenine DNA glycosylase)
I14M (p.Ile14Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
I14M (p.Ile14Met) variant details
- p.Ile14Met
- rs202240122
- ClinGen CA013551
- ClinVar RCV000130881
- ExAC rs202240122
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.14
- MetaLR 0.75
- MetaSVM 0.51
- PolyPhen-2 0.86
- SIFT 0.00
- MutPred 0.42
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome)
- 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)