P16A (p.Pro16Ala) variant of SCN8A (Q9UQD0)
P16A (p.Pro16Ala) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- gnomAD 12-51662863-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.78
- MetaSVM 0.61
- CADD 17.00
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available