P19L (p.Pro19Leu) variant of SCN8A (Q9UQD0)
P19L (p.Pro19Leu) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD 12-51662873-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.34
- ESM-1b 0.80
- AlphaMissense 0.11
- MetaLR 0.73
- MetaSVM 0.27
- CADD 20.60
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available
- Literature evidence available