P11H (p.Pro11His) variant of SCN2A (Q99250)
P11H (p.Pro11His) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P11H (p.Pro11His) variant details
- p.Pro11His
- gnomAD 2-165295855-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.96
- MetaSVM 1.09
- CADD 25.70
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available