E23K (p.Glu23Lys) variant of BRCA1 (P38398)
E23K (p.Glu23Lys) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC and BROVCA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes experimental measurements, published literature, and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs372047427
- ClinGen CA10602024
- ClinVar RCV001076496
- ClinVar RCV003584826
- Pathogenic
- in BC and BROVCA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.59
- MetaSVM 0.23
- CADD 24.60
- EVE 0.87
- EBI: Pathogenic (in BC and BROVCA1)
- UniProt: Pathogenic (in BC and BROVCA1)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -2.28
- 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)