P11H (p.Pro11His) variant of SCN8A (Q9UQD0)
P11H (p.Pro11His) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- gnomAD 12-51662849-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.00
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available
- Literature evidence available