C27F (p.Cys27Phe) variant of BRCA1 (P38398)
C27F (p.Cys27Phe) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C27F (p.Cys27Phe) variant details
- p.Cys27Phe
- rs1064793052
- ClinGen CA10601996
- ClinVar RCV000561214
- ClinVar RCV000696469
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 35.00
- PolyPhen-2 0.99
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -2.2
- 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)