P37S (p.Pro37Ser) variant of SCN2A (Q99250)
P37S (p.Pro37Ser) in SCN2A (Q99250) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- ExAC rs763906285
- gnomAD rs763906285
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.31
- ESM-1b 0.57
- AlphaMissense 0.11
- MetaLR 0.79
- MetaSVM -0.37
- CADD 18.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available