P2S (p.Pro2Ser) variant of BRCA2 (P51587)
P2S (p.Pro2Ser) 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.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- rs1266625701
- ClinGen CA387752885
- ClinVar RCV003032823
- gnomAD rs1266625701
- Uncertain significance
- Missense
- REVEL 0.04
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -0.91
- CADD 8.29
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)