P2A (p.Pro2Ala) variant of BRCA2 (P51587)
P2A (p.Pro2Ala) 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.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- rs1266625701
- ClinGen CA387752883
- ClinVar RCV003531342
- gnomAD rs1266625701
- Uncertain significance
- Missense
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -0.91
- SIFT 0.23
- MutPred 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)