I24T (p.Ile24Thr) variant of SCN10A (Q9Y5Y9)
I24T (p.Ile24Thr) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar 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 0.52 / 1. The record also includes population frequency data and structural context.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- TOPMed rs1160387185
- gnomAD rs1160387185
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.51
- MetaLR 0.86
- MetaSVM 0.70
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available