L28Q (p.Leu28Gln) variant of BRCA1 (P38398)
L28Q (p.Leu28Gln) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
L28Q (p.Leu28Gln) variant details
- p.Leu28Gln
- rs80357266
- ClinGen CA10601987
- ClinVar RCV001076552
- Ensembl rs80357266
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.78
- MetaSVM 0.70
- CADD 34.00
- EVE 0.87
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.63
- 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)