M1T (p.Met1Thr) variant of SCN5A (Nav1.5)
M1T (p.Met1Thr) 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 0.57 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2125936074
- ClinGen CA352159666
- ClinVar RCV003657619
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- ESM-1b 0.22
- AlphaMissense 0.67
- MetaLR 0.70
- MetaSVM 0.55
- CADD 23.50
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available