P80P (p.Pro80Pro) variant of SCN8A (Nav1.6)
P80P (p.Pro80Pro) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P80P (p.Pro80Pro) variant details
- p.Pro80Pro
- rs1266385723
- gnomAD 12-51663057-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 12.50
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available