R10L (p.Arg10Leu) variant of FH (P07954)
R10L (p.Arg10Leu) 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 0.76 / 1. The record also includes published literature and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- rs1660323387
- ClinGen CA345443032
- ClinVar RCV002435608
- ClinVar RCV005058853
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.43
- MetaLR 0.88
- MetaSVM 0.84
- PolyPhen-2 0.91
- SIFT 0.03
- MutPred 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)