D42Y (p.Asp42Tyr) variant of WDR19 (WD repeat-containing protein 19)
D42Y (p.Asp42Tyr) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- ESP rs375560382
- ExAC rs375560382
- gnomAD rs375560382
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.12
- MetaSVM -0.88
- CADD 27.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available