E3D (p.Glu3Asp) variant of PALB2 (Partner and localizer of BRCA2)
E3D (p.Glu3Asp) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- rs786202325
- ClinGen CA194295
- ClinVar RCV000165831
- ClinVar RCV001036481
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.04
- CADD 13.20
- PolyPhen-2 0.04
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)