W37C (p.Trp37Cys) variant of FH (P07954)
W37C (p.Trp37Cys) 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 0.69 / 1. The record also includes published literature and structural context.
W37C (p.Trp37Cys) variant details
- p.Trp37Cys
- rs1573889881
- ClinGen CA345442670
- ClinVar RCV001009917
- Ensembl rs1573889881
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 0.88
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.29
- 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)