W21C (p.Trp21Cys) variant of WDR19 (WD repeat-containing protein 19)
W21C (p.Trp21Cys) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
W21C (p.Trp21Cys) variant details
- p.Trp21Cys
- 1000Genomes rs545407291
- ExAC rs545407291
- gnomAD rs545407291
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.09
- MetaSVM -0.94
- CADD 29.10
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available