Q22K (p.Gln22Lys) variant of WDR19 (WD repeat-containing protein 19)
Q22K (p.Gln22Lys) in WDR19 (WD repeat-containing protein 19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- gnomAD 4-39185782-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 26.30
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Literature evidence available