R12L (p.Arg12Leu) variant of FH (P07954)
R12L (p.Arg12Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- rs367826177
- ClinGen CA1478782
- ClinVar RCV000700942
- ClinVar RCV001020691
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fumarase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.37
- AlphaMissense 0.12
- MetaLR 0.90
- MetaSVM 1.07
- CADD 10.20
- PolyPhen-2 0.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fumarase deficiency; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- 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)