T72P (p.Thr72Pro) variant of FH (P07954)
T72P (p.Thr72Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T72P (p.Thr72Pro) variant details
- p.Thr72Pro
- rs886039362
- ClinGen CA10588293
- ClinVar RCV000254803
- ClinVar RCV001062945
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Fumarase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)