T56I (p.Thr56Ile) variant of FH (P07954)
T56I (p.Thr56Ile) in FH (P07954) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- rs1433872618
- ClinGen CA345441961
- ClinVar RCV001012693
- ClinVar RCV002551761
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.35
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 0.00
- SIFT 0.43
- EVE 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)