C27R (p.Cys27Arg) variant of BRCA1 (P38398)
C27R (p.Cys27Arg) 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 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
C27R (p.Cys27Arg) variant details
- p.Cys27Arg
- rs2055713838
- ClinGen CA10602000
- ClinVar RCV001076512
- ClinVar RCV005318613
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)