R18L (p.Arg18Leu) variant of BRCA2 (P51587)
R18L (p.Arg18Leu) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and published literature.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- rs80358762
- ClinGen CA387753070
- cosmic curated COSV61526
- ClinVar RCV004524534
- Benign
- Missense
- AlphaMissense 0.78
- MetaLR 0.01
- MetaSVM -1.01
- SIFT 0.00
- MutPred 0.39
- EBI: Benign
- UniProt: Benign
- 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)