P19P (p.Pro19Pro) variant of SCN8A (Q9UQD0)
P19P (p.Pro19Pro) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P19P (p.Pro19Pro) variant details
- p.Pro19Pro
- rs1450138204
- gnomAD 12-51662874-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.25
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available
- Literature evidence available