S6L (p.Ser6Leu) variant of WDR19 (WD repeat-containing protein 19)
S6L (p.Ser6Leu) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- gnomAD 4-39185736-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -1.05
- CADD 20.10
- Population evidence available
- Structural context available
- Literature evidence available