I14L (p.Ile14Leu) variant of MUTYH (Adenine DNA glycosylase)
I14L (p.Ile14Leu) 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 0.50 / 1. The record also includes published literature and structural context.
I14L (p.Ile14Leu) variant details
- p.Ile14Leu
- rs1570467299
- ClinGen CA340137333
- ClinVar RCV001021863
- Ensembl rs1570467299
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- AlphaMissense 0.15
- MetaLR 0.60
- MetaSVM 0.08
- PolyPhen-2 0.07
- SIFT 0.00
- MutPred 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)