E10K (p.Glu10Lys) variant of BRCA1 (P38398)
E10K (p.Glu10Lys) 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; BRCA1-related cancer predisposition; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes experimental measurements, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs2055737833
- ClinGen CA10602107
- ClinVar RCV001078114
- ClinVar RCV001797819
- Uncertain significance
- Hereditary cancer-predisposing syndrome; BRCA1-related cancer predisposition; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.57
- MetaSVM 0.17
- CADD 24.40
- EVE 0.84
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; BRCA1-related cancer pr)
- EBI: Pathogenic (in BC and BROVCA1)
- UniProt: Pathogenic (in BC and BROVCA1)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -2.81
- Cited in: Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. (PMID 14722926)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)