E10V (p.Glu10Val) variant of BRCA1 (P38398)
E10V (p.Glu10Val) 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 0.67 / 1. The record also includes experimental measurements, published literature, and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- rs2055737507
- ClinGen CA10602102
- ClinVar RCV001078119
- Ensembl rs2055737507
- Uncertain significance
- in BC and BROVCA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.54
- MetaSVM 0.09
- CADD 23.70
- EVE 0.85
- EBI: Variant of uncertain significance (in BC and BROVCA1)
- UniProt: Uncertain significance (in BC and BROVCA1)
- 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)