G49C (p.Gly49Cys) variant of SCN2A (Q99250)
G49C (p.Gly49Cys) in SCN2A (Q99250) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
G49C (p.Gly49Cys) variant details
- p.Gly49Cys
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99333
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- ESM-1b 0.27
- AlphaMissense 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available