D2Y (p.Asp2Tyr) variant of BRCA1 (P38398)
D2Y (p.Asp2Tyr) in BRCA1 (P38398) is a missense change. Clinical records from UniProt describe it as breast-ovarian cancer, familial, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- rs778775133
- ClinGen CA10602150
- ClinVar RCV001077626
- ExAC rs778775133
- Breast-ovarian cancer, familial, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.48
- MetaLR 0.57
- MetaSVM 0.19
- CADD 5.55
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Breast-ovarian cancer, familial, susceptibility
- Population evidence available
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.805
- 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)