P52L (p.Pro52Leu) variant of SCN2A (Q99250)
P52L (p.Pro52Leu) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD 2-165295978-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available