Q12Q (p.Gln12Gln) variant of BRCA1 (P38398)
Q12Q (p.Gln12Gln) in BRCA1 (P38398) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- gnomAD 17-43050063-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.43
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -0.218
- Literature evidence available