H44R (p.His44Arg) variant of WDR19 (WD repeat-containing protein 19)
H44R (p.His44Arg) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H44R (p.His44Arg) variant details
- p.His44Arg
- TOPMed rs1725579623
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.12
- CADD 21.90
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available