W12C (p.Trp12Cys) variant of WDR19 (WD repeat-containing protein 19)
W12C (p.Trp12Cys) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
W12C (p.Trp12Cys) variant details
- p.Trp12Cys
- gnomAD 4-39185755-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.19
- MetaSVM -0.83
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available