R16W (p.Arg16Trp) variant of FH (P07954)
R16W (p.Arg16Trp) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs1324875131
- ClinGen CA345442959
- ClinVar RCV002334348
- ClinVar RCV002533605
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.48
- CADD 22.30
- PolyPhen-2 0.42
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- 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)