T56A (p.Thr56Ala) variant of FH (P07954)
T56A (p.Thr56Ala) 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; not specified; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- rs1232573732
- ClinGen CA345441963
- ClinVar RCV002528877
- ClinVar RCV003352953
- Uncertain significance
- not provided; not specified; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.59
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not provided; not specified; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 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)