P8P (p.Pro8Pro) variant of SCN2A (Q99250)
P8P (p.Pro8Pro) in SCN2A (Q99250) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P8P (p.Pro8Pro) variant details
- p.Pro8Pro
- rs149534277
- gnomAD 2-165295847-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0931
- CADD 1.76
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available
- Literature evidence available