I3T (p.Ile3Thr) variant of BRCA2 (P51587)
I3T (p.Ile3Thr) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and published literature.
I3T (p.Ile3Thr) variant details
- p.Ile3Thr
- rs1555280096
- ClinGen CA387752900
- ClinVar RCV000502615
- ClinVar RCV001342409
- Likely benign
- Missense
- AlphaMissense 0.13
- MetaLR 0.00
- MetaSVM -0.91
- SIFT 0.00
- MutPred 0.22
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)