E33K (p.Glu33Lys) variant of BRCA2 (P51587)
E33K (p.Glu33Lys) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- rs397508065
- ClinGen CA387754128
- ClinVar RCV001238658
- ClinVar RCV003294128
- Pathogenic
- Missense
- AlphaMissense 0.20
- MetaLR 0.03
- MetaSVM -1.13
- SIFT 0.00
- MutPred 0.36
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)