P52T (p.Pro52Thr) variant of SCN5A (Nav1.5)
P52T (p.Pro52Thr) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, 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 0.45 / 1. The record also includes structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- rs199473553
- ClinGen CA352158487
- ClinVar RCV003567217
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.68
- MetaSVM 0.55
- CADD 23.00
- EVE 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Structural context available