C24F (p.Cys24Phe) variant of BRCA1 (P38398)
C24F (p.Cys24Phe) 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 0.90 / 1. The record also includes experimental measurements, published literature, and structural context.
C24F (p.Cys24Phe) variant details
- p.Cys24Phe
- rs80357198
- ClinGen CA10602014
- cosmic curated COSV58794
- ClinVar RCV001077754
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 27.30
- 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)