P9S (p.Pro9Ser) variant of BRCA2 (P51587)
P9S (p.Pro9Ser) 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.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs1593880685
- ClinGen CA387752972
- ClinVar RCV001016067
- ClinVar RCV002550813
- Uncertain significance
- Missense
- REVEL 0.11
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)