T207A (p.Thr207Ala) variant of SCN5A (Nav1.5)
T207A (p.Thr207Ala) 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 0.68 / 1. The record also includes structural context.
T207A (p.Thr207Ala) variant details
- p.Thr207Ala
- rs2062158837
- ClinGen CA352151725
- NCI-TCGA Cosmic COSV6114
- cosmic curated COSV61142
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.88
- MetaSVM 0.79
- CADD 22.60
- EVE 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available