P2L (p.Pro2Leu) variant of BRCA2 (P51587)
P2L (p.Pro2Leu) 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.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs80358836
- ClinGen CA023494
- ClinVar RCV000113015
- ClinVar RCV001024782
- Uncertain significance
- Missense
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -1.03
- SIFT 0.00
- MutPred 0.28
- 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)