L5R (p.Leu5Arg) variant of FH (P07954)
L5R (p.Leu5Arg) 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 0.67 / 1. The record also includes published literature and structural context.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- rs200099371
- ClinGen CA345443084
- ClinVar RCV003205407
- ClinVar RCV003561228
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.13
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 0.00
- SIFT 0.08
- MutPred 0.24
- 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)