R3Q (p.Arg3Gln) variant of FH (P07954)
R3Q (p.Arg3Gln) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs1573890051
- ClinGen CA345443105
- ClinVar RCV003841317
- ClinVar RCV005567681
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.47
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 0.93
- CADD 21.70
- PolyPhen-2 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)