N48S (p.Asn48Ser) variant of FH (P07954)
N48S (p.Asn48Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- rs1660246440
- ClinGen CA345442034
- ClinVar RCV002394330
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.18
- MetaLR 0.91
- MetaSVM 0.93
- PolyPhen-2 0.02
- SIFT 0.08
- MutPred 0.38
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)