P37R (p.Pro37Arg) variant of SCN8A (Nav1.6)
P37R (p.Pro37Arg) in SCN8A (Nav1.6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- TOPMed rs1339579428
- gnomAD rs1339579428
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.81
- MetaSVM 0.44
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available