S24L (p.Ser24Leu) variant of FH (P07954)
S24L (p.Ser24Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs587778361
- ClinGen CA345442828
- ClinVar RCV002370846
- Ensembl rs587778361
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- AlphaMissense 0.19
- MetaLR 0.89
- MetaSVM 1.00
- CADD 10.30
- PolyPhen-2 0.73
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)