P53P (p.Pro53Pro) variant of SCN8A (Nav1.6)
P53P (p.Pro53Pro) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P53P (p.Pro53Pro) variant details
- p.Pro53Pro
- rs750806532
- gnomAD 12-51662976-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 12.00
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Literature evidence available