C24R (p.Cys24Arg) variant of BRCA1 (P38398)
C24R (p.Cys24Arg) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
C24R (p.Cys24Arg) variant details
- p.Cys24Arg
- rs80357410
- ClinGen CA003829
- ClinVar RCV000111679
- ClinVar RCV000586566
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.40
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -4.45
- 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)