P26R (p.Pro26Arg) variant of BRCA2 (P51587)
P26R (p.Pro26Arg) 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.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- rs1566215668
- ClinGen CA387754048
- ClinVar RCV001340219
- ClinVar RCV002412065
- Uncertain significance
- Missense
- REVEL 0.29
- MetaLR 0.08
- MetaSVM -1.18
- CADD 25.10
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)