E23V (p.Glu23Val) variant of BRCA1 (P38398)
E23V (p.Glu23Val) 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 0.71 / 1. The record also includes experimental measurements, published literature, and structural context.
E23V (p.Glu23Val) variant details
- p.Glu23Val
- rs1597923307
- ClinGen CA10602019
- ClinVar RCV001077713
- Ensembl rs1597923307
- Uncertain significance
- in BC and BROVCA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.85
- MetaLR 0.66
- MetaSVM 0.35
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.84
- EBI: Variant of uncertain significance (in BC and BROVCA1)
- UniProt: Uncertain significance (in BC and BROVCA1)
- 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)