E23D (p.Glu23Asp) variant of BRCA1 (P38398)
E23D (p.Glu23Asp) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in BC and BROVCA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 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
- Likely benign
- in BC and BROVCA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.95
- MetaLR 0.55
- MetaSVM 0.02
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.87
- EBI: Likely benign (in BC and BROVCA1)
- UniProt: Likely benign (in BC and BROVCA1)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.941
- 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)