Q22* (p.Gln22Ter) variant of WDR19 (WD repeat-containing protein 19)
Q22* (p.Gln22Ter) in WDR19 (WD repeat-containing protein 19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- gnomAD 4-39185783-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Literature evidence available