T330P (p.Thr330Pro) variant of FH (P07954)
T330P (p.Thr330Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
T330P (p.Thr330Pro) variant details
- p.Thr330Pro
- rs776313200
- ClinGen CA345438274
- ClinVar RCV001019860
- ClinVar RCV002534338
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.12
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.24
- SIFT 0.05
- EVE 0.24
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)