Q73A (p.Gln73Ala) variant of BAK1 (Q16611)
Q73A (p.Gln73Ala) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q73A (p.Gln73Ala) variant details
- p.Gln73Ala
- rs34017174
- gnomAD 6-33575431-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.816
- CADD 33.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available