Q12L (p.Gln12Leu) variant of BRCA1 (P38398)
Q12L (p.Gln12Leu) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes experimental measurements, published literature, and structural context.
Q12L (p.Gln12Leu) variant details
- p.Gln12Leu
- rs1555601006
- ClinGen CA10602091
- ClinVar RCV001077668
- ClinVar RCV006666762
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.51
- MetaSVM 0.04
- CADD 24.30
- EVE 0.86
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -0.218
- 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)