S54R (p.Ser54Arg) variant of SCN2A (Q99250)
S54R (p.Ser54Arg) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- gnomAD 2-165295985-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.86
- MetaSVM 0.71
- CADD 23.10
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Literature evidence available