S13G (p.Ser13Gly) variant of SCN2A (Q99250)
S13G (p.Ser13Gly) 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 0.49 / 1. The record also includes structural context.
S13G (p.Ser13Gly) variant details
- p.Ser13Gly
- rs2106148981
- ClinGen CA349009731
- ClinVar RCV001759084
- Ensembl rs2106148981
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- ESM-1b 0.36
- AlphaMissense 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available