I14T (p.Ile14Thr) variant of BRCA2 (P51587)
I14T (p.Ile14Thr) 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.
I14T (p.Ile14Thr) variant details
- p.Ile14Thr
- rs1241704385
- ClinGen CA387753029
- ClinVar RCV003484435
- Uncertain significance
- Missense
- AlphaMissense 0.29
- MetaLR 0.01
- MetaSVM -1.04
- SIFT 0.05
- MutPred 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)