R51Q (p.Arg51Gln) variant of FH (P07954)
R51Q (p.Arg51Gln) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs976734433
- ClinGen CA40336041
- ClinVar RCV002398014
- ClinVar RCV002564404
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.93
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)