P26L (p.Pro26Leu) variant of BRCA2 (P51587)
P26L (p.Pro26Leu) 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.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs1566215668
- ClinGen CA387754049
- ClinVar RCV000758951
- ClinVar RCV001026823
- Uncertain significance
- Missense
- REVEL 0.31
- MetaLR 0.08
- MetaSVM -1.18
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- 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)