L34P (p.Leu34Pro) variant of SCN8A (Q9UQD0)
L34P (p.Leu34Pro) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- gnomAD rs1228455370
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.64
- MetaSVM 0.05
- CADD 23.60
- Most common in the 1KG:MSL population (allele frequency 0.081)
- Structural context available