T10I (p.Thr10Ile) variant of BRCA2 (P51587)
T10I (p.Thr10Ile) 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.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- rs1057519494
- ClinGen CA387752986
- ClinVar RCV000701153
- ClinVar RCV003584724
- Uncertain significance
- Missense
- AlphaMissense 0.47
- MetaLR 0.01
- MetaSVM -1.00
- SIFT 0.00
- MutPred 0.24
- 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)