E23Q (p.Glu23Gln) variant of BRCA1 (P38398)
E23Q (p.Glu23Gln) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC and BROVCA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- rs372047427
- ClinGen CA10602023
- ClinVar RCV000510068
- ClinVar RCV001076497
- Pathogenic
- in BC and BROVCA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.59
- MetaSVM 0.23
- CADD 24.60
- EBI: Pathogenic (in BC and BROVCA1)
- UniProt: Pathogenic (in BC and BROVCA1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)