W37S (p.Trp37Ser) variant of FH (P07954)
W37S (p.Trp37Ser) 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.
W37S (p.Trp37Ser) variant details
- p.Trp37Ser
- rs1660318244
- ClinGen CA345442675
- ClinVar RCV003104040
- ClinVar RCV004035957
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.09
- MetaLR 0.92
- MetaSVM 0.54
- PolyPhen-2 0.00
- SIFT 0.40
- MutPred 0.42
- 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)