L22S (p.Leu22Ser) variant of FH (P07954)
L22S (p.Leu22Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
L22S (p.Leu22Ser) variant details
- p.Leu22Ser
- rs1031919395
- ClinGen CA345442869
- ClinVar RCV002625340
- ClinVar RCV004045407
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.06
- MetaLR 0.91
- MetaSVM 1.12
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)