D238H (p.Asp238His) variant of FH (P07954)
D238H (p.Asp238His) 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 leiomyomatosis and renal cell cancer; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D238H (p.Asp238His) variant details
- p.Asp238His
- rs1659989676
- ClinGen CA345439195
- ClinVar RCV002367462
- ClinVar RCV003098478
- Pathogenic/Likely pathogenic
- Hereditary leiomyomatosis and renal cell cancer; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Hereditary leiomyomatosis and renal cell cancer; Hereditary canc)
- 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)