P9Q (p.Pro9Gln) variant of SCN2A (Q99250)
P9Q (p.Pro9Gln) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD 2-165295849-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.77
- ESM-1b 0.16
- AlphaMissense 0.77
- MetaLR 0.96
- MetaSVM 1.09
- CADD 25.20
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available