P9S (p.Pro9Ser) variant of SCN2A (Q99250)
P9S (p.Pro9Ser) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- TOPMed rs1469809588
- gnomAD rs1469809588
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.80
- ESM-1b 0.25
- AlphaMissense 0.67
- MetaLR 0.95
- MetaSVM 1.09
- CADD 24.90
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available