T56S (p.Thr56Ser) variant of FH (P07954)
T56S (p.Thr56Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T56S (p.Thr56Ser) variant details
- p.Thr56Ser
- rs1433872618
- ClinGen CA345441960
- ClinVar RCV001012692
- ClinVar RCV002549374
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.50
- AlphaMissense 0.35
- MetaLR 0.91
- MetaSVM 0.96
- CADD 21.20
- PolyPhen-2 0.00
- 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 1.5e-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)