E13A (p.Glu13Ala) variant of PALB2 (Partner and localizer of BRCA2)
E13A (p.Glu13Ala) 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.
E13A (p.Glu13Ala) variant details
- p.Glu13Ala
- rs876658288
- ClinGen CA395141053
- ClinVar RCV000579852
- Ensembl rs876658288
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.74
- MetaLR 0.12
- MetaSVM -0.82
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.19
- 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)