P9R (p.Pro9Arg) variant of BRCA2 (P51587)
P9R (p.Pro9Arg) 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 and published literature.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- rs80358527
- ClinGen CA16613796
- ClinVar RCV000464920
- gnomAD rs80358527
- Uncertain significance
- Missense
- AlphaMissense 0.14
- MetaLR 0.01
- MetaSVM -1.05
- SIFT 0.00
- MutPred 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)