S5P (p.Ser5Pro) variant of BRCA2 (P51587)
S5P (p.Ser5Pro) 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.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- rs1478936460
- ClinGen CA387752920
- ClinVar RCV001181353
- ClinVar RCV001305448
- Uncertain significance
- Missense
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.84
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-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)