F36V (p.Phe36Val) variant of FH (P07954)
F36V (p.Phe36Val) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
F36V (p.Phe36Val) variant details
- p.Phe36Val
- rs2147926878
- ClinGen CA345442689
- ClinVar RCV002269161
- ClinVar RCV005565220
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 0.00
- SIFT 0.50
- MutPred 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified)
- 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)