A33V (p.Ala33Val) variant of SCN5A (Nav1.5)
A33V (p.Ala33Val) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs1288398293
- ClinGen CA352158919
- cosmic curated COSV10810
- ClinVar RCV001841119
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.73
- MetaSVM 0.62
- CADD 23.00
- EVE 0.21
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available