R3G (p.Arg3Gly) variant of WDR19 (WD repeat-containing protein 19)
R3G (p.Arg3Gly) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- gnomAD 4-39185726-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.28
- MetaSVM -0.65
- CADD 23.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available