T56N (p.Thr56Asn) variant of FH (P07954)
T56N (p.Thr56Asn) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T56N (p.Thr56Asn) variant details
- p.Thr56Asn
- rs1433872618
- ClinGen CA345441955
- ClinVar RCV002560389
- ClinVar RCV005834103
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.67
- AlphaMissense 0.35
- MetaLR 0.91
- MetaSVM 0.96
- CADD 25.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; 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)