Q94R (p.Gln94Arg) variant of BAK1 (Q16611)
Q94R (p.Gln94Arg) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q94R (p.Gln94Arg) variant details
- p.Gln94Arg
- rs1238547388
- gnomAD 6-33575367-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 29.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available