E10D (p.Glu10Asp) variant of BRCA1 (P38398)
E10D (p.Glu10Asp) in BRCA1 (P38398) is a missense change. Clinical records from UniProt describe it as breast-ovarian cancer, familial, susceptibility in the context of in BC and BROVCA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- rs2055737161
- ClinGen CA10602100
- ClinVar RCV001072345
- Ensembl rs2055737161
- Breast-ovarian cancer, familial, susceptibility
- in BC and BROVCA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.46
- MetaSVM -0.21
- CADD 20.90
- UniProt: Breast-ovarian cancer, familial, susceptibility (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 -2.81
- 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)