P116S (p.Pro116Ser) variant of SCN5A (Nav1.5)
P116S (p.Pro116Ser) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
P116S (p.Pro116Ser) variant details
- p.Pro116Ser
- cosmic curated COSV60067
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- ESM-1b 1.00
- AlphaMissense 0.71
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available