Q12R (p.Gln12Arg) variant of BRCA1 (P38398)
Q12R (p.Gln12Arg) 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 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- rs1555601006
- ClinGen CA10602092
- ClinVar RCV000510066
- ClinVar RCV001076455
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.58
- ESM-1b 0.73
- AlphaMissense 0.12
- MetaLR 0.51
- MetaSVM 0.04
- CADD 24.30
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)