E13Q (p.Glu13Gln) variant of PALB2 (Partner and localizer of BRCA2)
E13Q (p.Glu13Gln) 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 not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- rs373287455
- ClinGen CA395141058
- ClinVar RCV001021185
- ClinVar RCV001209944
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Familial cancer of breas
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.44
- MetaLR 0.13
- MetaSVM -0.82
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.13
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)