P73P (p.Pro73Pro) variant of SCN8A (Q9UQD0)
P73P (p.Pro73Pro) in SCN8A (Q9UQD0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P73P (p.Pro73Pro) variant details
- p.Pro73Pro
- gnomAD 12-51663036-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.05
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available