C21S (p.Cys21Ser) variant of SCN1B (Q07699)
C21S (p.Cys21Ser) in SCN1B (Q07699) 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 1.00 / 1. The record also includes structural context.
C21S (p.Cys21Ser) variant details
- p.Cys21Ser
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52893
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 0.99
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available