A45S (p.Ala45Ser) variant of FH (P07954)
A45S (p.Ala45Ser) 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; Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- rs1260007300
- ClinGen CA345442071
- ClinVar RCV001010940
- ClinVar RCV002549331
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.94
- PolyPhen-2 0.00
- SIFT 0.43
- MutPred 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fumarase)
- 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)