V129A (p.Val129Ala) variant of SCN5A (Nav1.5)
V129A (p.Val129Ala) 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 0.81 / 1. The record also includes structural context.
V129A (p.Val129Ala) variant details
- p.Val129Ala
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- ESM-1b 1.00
- AlphaMissense 0.59
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available