R28L (p.Arg28Leu) variant of SCN2A (Q99250)
R28L (p.Arg28Leu) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 2-165295906-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.97
- MetaSVM 0.71
- CADD 29.20
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available
- Literature evidence available