D191V (p.Asp191Val) variant of SCN5A (Nav1.5)
D191V (p.Asp191Val) in SCN5A (Nav1.5) 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 0.98 / 1. The record also includes structural context.
D191V (p.Asp191Val) variant details
- p.Asp191Val
- cosmic curated COSV10736
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- ESM-1b 1.00
- AlphaMissense 0.96
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available