T234I (p.Thr234Ile) variant of FH (P07954)
T234I (p.Thr234Ile) 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 leiomyomatosis and renal cell cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T234I (p.Thr234Ile) variant details
- p.Thr234Ile
- rs878853695
- ClinGen CA10581783
- ClinVar RCV002518307
- ClinVar RCV005425868
- Pathogenic/Likely pathogenic
- not provided; Hereditary leiomyomatosis and renal cell cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary leiomyomatosis and renal cell cancer)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)