T89I (p.Thr89Ile) variant of SCN5A (Nav1.5)
T89I (p.Thr89Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data and structural context.
T89I (p.Thr89Ile) variant details
- p.Thr89Ile
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.58
- ESM-1b 0.74
- AlphaMissense 0.24
- MetaLR 0.88
- MetaSVM 0.50
- CADD 22.80
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available