S11L (p.Ser11Leu) variant of FH (P07954)
S11L (p.Ser11Leu) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S11L (p.Ser11Leu) variant details
- p.Ser11Leu
- rs1226883651
- ClinGen CA345443018
- ClinVar RCV002548719
- ClinVar RCV004039748
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.35
- AlphaMissense 0.21
- MetaLR 0.88
- MetaSVM 0.71
- CADD 10.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)