L13R (p.Leu13Arg) variant of WDR19 (WD repeat-containing protein 19)
L13R (p.Leu13Arg) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- ExAC rs754949027
- gnomAD rs754949027
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.98
- CADD 16.40
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available