E9G (p.Glu9Gly) variant of BRCA1 (P38398)
E9G (p.Glu9Gly) in BRCA1 (P38398) is a missense change. Clinical records from UniProt describe it as breast-ovarian cancer, familial, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes experimental measurements, published literature, and structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- rs2055738683
- ClinGen CA10602111
- ClinVar RCV001077658
- Ensembl rs2055738683
- Breast-ovarian cancer, familial, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.61
- MetaSVM 0.20
- CADD 24.90
- EVE 0.82
- UniProt: Breast-ovarian cancer, familial, susceptibility
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 Y2H: score -0.796
- 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)