P19T (p.Pro19Thr) variant of SCN8A (Q9UQD0)
P19T (p.Pro19Thr) in SCN8A (Q9UQD0) 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 0.50 / 1. The record also includes structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.40
- ESM-1b 0.65
- AlphaMissense 0.14
- MetaLR 0.79
- MetaSVM 0.73
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available