Q12* (p.Gln12Ter) variant of BRCA1 (P38398)
Q12* (p.Gln12Ter) 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 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- rs80357134
- ClinGen CA002251
- ClinVar RCV000111614
- ClinVar RCV000412855
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.595
- MetaLR 0.46
- MetaSVM -0.13
- CADD 22.50
- EVE 0.81
- MutPred 0.28
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -0.218
- 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)