I11T (p.Ile11Thr) variant of CDKN2A (Tumor suppressor ARF)
I11T (p.Ile11Thr) in CDKN2A (Tumor suppressor ARF) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I11T (p.Ile11Thr) variant details
- p.Ile11Thr
- rs1820535713
- ClinGen CA373087075
- ClinVar RCV002326215
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.87
- MetaLR 0.58
- MetaSVM -0.26
- CADD 25.10
- SIFT 0.00
- EVE 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- 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)