E23D (p.Glu23Asp) variant of BRCA1 (P38398)
E23D (p.Glu23Asp) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- rs766004110
- ClinGen CA10580714
- ClinVar RCV000218588
- ClinVar RCV000462185
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign (in BC and BROVCA1)
- UniProt: Likely benign (in BC and BROVCA1)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -2.28
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)