N188I (p.Asn188Ile) variant of FH (P07954)
N188I (p.Asn188Ile) 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; Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
N188I (p.Asn188Ile) variant details
- p.Asn188Ile
- rs2147919711
- ClinGen CA345439496
- ClinVar RCV002550960
- ClinVar RCV004619680
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Fumarase)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)