Q12L (p.Gln12Leu) variant of BRCA1 (P38398)
Q12L (p.Gln12Leu) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes experimental measurements, published literature, and structural context.
Q12L (p.Gln12Leu) variant details
- p.Gln12Leu
- rs1555601006
- ClinGen CA10602091
- ClinVar RCV001077668
- gnomAD rs1555601006
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.35
- MetaLR 0.42
- MetaSVM -0.12
- PolyPhen-2 0.69
- SIFT 0.10
- EVE 0.84
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.036
- 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)