C24* (p.Cys24Ter) variant of BRCA1 (P38398)
C24* (p.Cys24Ter) 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 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
C24* (p.Cys24Ter) variant details
- p.Cys24Ter
- rs1597923232
- ClinGen CA10602013
- ClinVar RCV001077755
- ClinVar RCV005093446
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -2.41
- 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)