C27G (p.Cys27Gly) variant of BRCA1 (P38398)
C27G (p.Cys27Gly) 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 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
C27G (p.Cys27Gly) variant details
- p.Cys27Gly
- rs2055713838
- ClinGen CA10601999
- ClinVar RCV001076513
- ClinVar RCV005782094
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- CADD 28.20
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -3.83
- 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)