E53K (p.Glu53Lys) variant of FH (P07954)
E53K (p.Glu53Lys) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- rs863224013
- ClinGen CA322588
- ClinVar RCV002399736
- ClinVar RCV002517215
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.90
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)