E12Q (p.Glu12Gln) variant of PALB2 (Partner and localizer of BRCA2)
E12Q (p.Glu12Gln) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- rs765520187
- ClinGen CA7963887
- ClinVar RCV001020465
- ClinVar RCV002551827
- Conflicting interpretations
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.09
- PolyPhen-2 0.97
- SIFT 0.09
- MutPred 0.10
- ClinVar: Conflicting classifications of pathogenicity (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)