P16P (p.Pro16Pro) variant of SCN8A (Q9UQD0)
P16P (p.Pro16Pro) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P16P (p.Pro16Pro) variant details
- p.Pro16Pro
- gnomAD 12-51662865-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 12.70
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Literature evidence available