E9D (p.Glu9Asp) variant of BRCA1 (P38398)
E9D (p.Glu9Asp) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes experimental measurements, published literature, and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- rs2055738370
- ClinGen CA10602108
- ClinVar RCV001078113
- Ensembl rs2055738370
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- AlphaMissense 0.17
- MetaLR 0.50
- MetaSVM -0.04
- PolyPhen-2 0.13
- SIFT 0.26
- EVE 0.53
- EBI: Likely benign
- UniProt: Likely benign
- 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)