R12G (p.Arg12Gly) variant of FH (P07954)
R12G (p.Arg12Gly) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- rs199912971
- ClinGen CA345443013
- ClinVar RCV002454313
- ClinVar RCV002548971
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.11
- MetaLR 0.89
- MetaSVM 0.77
- PolyPhen-2 0.00
- SIFT 0.37
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)