H44Q (p.His44Gln) variant of WDR19 (WD repeat-containing protein 19)
H44Q (p.His44Gln) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H44Q (p.His44Gln) variant details
- p.His44Gln
- gnomAD rs1725579903
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.02
- MetaSVM -1.01
- CADD 19.90
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available