E3K (p.Glu3Lys) variant of PALB2 (Partner and localizer of BRCA2)
E3K (p.Glu3Lys) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- rs878855123
- ClinGen CA395141243
- ClinVar RCV000561851
- ClinVar RCV001064138
- Conflicting interpretations
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.10
- AlphaMissense 0.19
- MetaLR 0.08
- MetaSVM -1.05
- CADD 25.90
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)