N48H (p.Asn48His) variant of SCN2A (Q99250)
N48H (p.Asn48His) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
N48H (p.Asn48His) variant details
- p.Asn48His
- TOPMed rs1380861945
- gnomAD rs1380861945
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.46
- ESM-1b 0.45
- AlphaMissense 0.13
- MetaLR 0.90
- MetaSVM 0.94
- CADD 23.00
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available