A42S (p.Ala42Ser) variant of FH (P07954)
A42S (p.Ala42Ser) 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 0.63 / 1. The record also includes published literature and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- rs2147926832
- ClinGen CA345442634
- ClinVar RCV002552917
- ClinVar RCV004946823
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.07
- MetaLR 0.89
- MetaSVM 0.53
- PolyPhen-2 0.02
- SIFT 0.49
- MutPred 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)