E19G (p.Glu19Gly) variant of PALB2 (Partner and localizer of BRCA2)
E19G (p.Glu19Gly) 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 0.41 / 1. The record also includes published literature and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- rs2142461139
- ClinGen CA395139957
- ClinVar RCV003278573
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.47
- MetaLR 0.13
- MetaSVM -0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)