A31E (p.Ala31Glu) variant of FH (P07954)
A31E (p.Ala31Glu) 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 0.68 / 1. The record also includes published literature and structural context.
A31E (p.Ala31Glu) variant details
- p.Ala31Glu
- rs876659347
- ClinGen CA345442727
- ClinVar RCV002539537
- ClinVar RCV005841762
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.12
- MetaLR 0.89
- MetaSVM 1.04
- PolyPhen-2 0.36
- SIFT 0.33
- MutPred 0.20
- 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)