E13D (p.Glu13Asp) variant of BRCA2 (P51587)
E13D (p.Glu13Asp) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- rs1555280111
- ClinGen CA387753023
- ClinVar RCV000564529
- Ensembl rs1555280111
- Uncertain significance
- Missense
- REVEL 0.05
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)