R51W (p.Arg51Trp) variant of FH (P07954)
R51W (p.Arg51Trp) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Fumarase deficiency; Hereditary leiomyo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- rs778678782
- ClinGen CA1478759
- ClinVar RCV000804384
- ClinVar RCV002256525
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fumarase deficiency; Hereditary leiomyo
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.80
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fumarase deficiency; He)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)