H235D (p.His235Asp) variant of FH (P07954)
H235D (p.His235Asp) 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; Hereditary leiomyomatosis and renal cel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
H235D (p.His235Asp) variant details
- p.His235Asp
- rs863223968
- ClinGen CA16609371
- ClinVar RCV000445621
- ClinVar RCV003574775
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis and renal cel
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Hereditary leiomyomatos)
- 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)