E12K (p.Glu12Lys) variant of PALB2 (Partner and localizer of BRCA2)
E12K (p.Glu12Lys) 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; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- rs765520187
- ClinGen CA16614907
- ClinVar RCV000456981
- ClinVar RCV001020463
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.07
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.09
- CADD 24.90
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)