T101A (p.Thr101Ala) variant of SCN5A (Nav1.5)
T101A (p.Thr101Ala) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
T101A (p.Thr101Ala) variant details
- p.Thr101Ala
- rs2062506882
- ClinGen CA352157064
- ClinVar RCV002435860
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.70
- EVE 0.59
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available