Q11R (p.Gln11Arg) variant of BARD1 (Q99728)
Q11R (p.Gln11Arg) in BARD1 (Q99728) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- rs1692289600
- gnomAD 2-214730249-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 20.30
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available