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 0.54 / 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 0.538
- AlphaMissense 0.16
- MetaLR 0.60
- MetaSVM 0.03
- PolyPhen-2 0.96
- SIFT 0.15
- EVE 0.55
- UniProt: Breast-ovarian cancer, familial, susceptibility
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.712
- 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)