E29* (p.Glu29Ter) variant of BRCA1 (P38398)
E29* (p.Glu29Ter) in BRCA1 (P38398) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes experimental measurements, published literature, and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- rs80357443
- ClinGen CA003943
- ClinVar RCV000031288
- ClinVar RCV001389948
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- MetaLR 0.74
- MetaSVM 0.56
- CADD 26.20
- EVE 0.87
- MutPred 0.69
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -4.47
- 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)