T234A (p.Thr234Ala) variant of FH (P07954)
T234A (p.Thr234Ala) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Fumarase deficiency; Hereditary leiomyo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T234A (p.Thr234Ala) variant details
- p.Thr234Ala
- rs372505976
- ClinGen CA189288
- ClinVar RCV000163828
- ClinVar RCV000195694
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Fumarase deficiency; Hereditary leiomyo
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- CADD 23.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Fumarase deficiency; He)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)