E23A (p.Glu23Ala) variant of BRCA1 (P38398)
E23A (p.Glu23Ala) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in BC and BROVCA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E23A (p.Glu23Ala) variant details
- p.Glu23Ala
- rs1597923307
- ClinGen CA10602021
- ClinVar RCV001025778
- ClinVar RCV001077711
- Uncertain significance
- in BC and BROVCA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.79
- AlphaMissense 0.85
- MetaLR 0.66
- MetaSVM 0.35
- CADD 27.50
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance (in BC and BROVCA1)
- UniProt: Uncertain significance (in BC and BROVCA1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.941
- 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)