P9L (p.Pro9Leu) variant of BRCA2 (P51587)
P9L (p.Pro9Leu) 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.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs80358527
- ClinGen CA016099
- ClinVar RCV000113031
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)