E13K (p.Glu13Lys) variant of BRCA2 (P51587)
E13K (p.Glu13Lys) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs80358622
- ClinGen CA16619632
- ClinVar RCV000478846
- ClinVar RCV000543750
- Pathogenic
- Missense
- REVEL 0.10
- CADD 32.00
- PolyPhen-2 0.74
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.8e-05)
- 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)