E19K (p.Glu19Lys) variant of PALB2 (Partner and localizer of BRCA2)
E19K (p.Glu19Lys) in PALB2 (Partner and localizer of BRCA2) 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 0.34 / 1. The record also includes published literature and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs2142461160
- ClinGen CA395139970
- ClinVar RCV004517783
- Ensembl rs2142461160
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.16
- MetaLR 0.06
- MetaSVM -0.95
- PolyPhen-2 0.74
- SIFT 0.05
- EVE 0.37
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: 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)