D2E (p.Asp2Glu) variant of PALB2 (Partner and localizer of BRCA2)
D2E (p.Asp2Glu) 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 0.32 / 1. The record also includes published literature and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- rs1302088447
- ClinGen CA395141246
- ClinVar RCV003585714
- TOPMed rs1302088447
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)