P38L (p.Pro38Leu) variant of SCN8A (Q9UQD0)
P38L (p.Pro38Leu) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- gnomAD rs1227415655
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.79
- MetaSVM 0.57
- CADD 21.70
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available