I14V (p.Ile14Val) variant of MUTYH (Adenine DNA glycosylase)
I14V (p.Ile14Val) 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; not provided; Familial adenomatous poly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- rs1570467299
- ClinGen CA340137330
- ClinVar RCV001183941
- ClinVar RCV001284667
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- 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; not provided; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)