D23Y (p.Asp23Tyr) variant of BRCA2 (P51587)
D23Y (p.Asp23Tyr) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
D23Y (p.Asp23Tyr) variant details
- p.Asp23Tyr
- rs397507881
- ClinGen CA024413
- ClinVar RCV000258389
- ClinVar RCV001543453
- Pathogenic
- Missense
- AlphaMissense 0.33
- MetaLR 0.36
- MetaSVM -0.27
- SIFT 0.00
- MutPred 0.34
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)