I55F (p.Ile55Phe) variant of MUTYH (Adenine DNA glycosylase)
I55F (p.Ile55Phe) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I55F (p.Ile55Phe) variant details
- p.Ile55Phe
- rs2524291095
- ClinGen CA340136816
- ClinVar RCV002414864
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 4.86
- PolyPhen-2 0.48
- SIFT 0.15
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)