Q12E (p.Gln12Glu) variant of BRCA1 (P38398)
Q12E (p.Gln12Glu) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- rs80357134
- ClinGen CA10602094
- ClinVar RCV000801423
- ClinVar RCV001076453
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.13
- PolyPhen-2 0.15
- SIFT 0.05
- EVE 0.81
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)