E31K (p.Glu31Lys) variant of SCN2A (Q99250)
E31K (p.Glu31Lys) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs2467838141
- ClinGen CA349009927
- ClinVar RCV003329066
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- ESM-1b 1.00
- AlphaMissense 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available