E23G (p.Glu23Gly) variant of BRCA1 (P38398)
E23G (p.Glu23Gly) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in BC and BROVCA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes experimental measurements, published literature, and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- rs1597923307
- ClinGen CA10602020
- ClinVar RCV001077712
- Ensembl rs1597923307
- Uncertain significance
- in BC and BROVCA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.60
- MetaSVM 0.22
- CADD 24.70
- EVE 0.86
- EBI: Variant of uncertain significance (in BC and BROVCA1)
- UniProt: Uncertain significance (in BC and BROVCA1)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -2.28
- 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)