T100I (p.Thr100Ile) variant of SCN10A (Q9Y5Y9)
T100I (p.Thr100Ile) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T100I (p.Thr100Ile) variant details
- p.Thr100Ile
- rs758035498
- NCI-TCGA Cosmic COSV7186
- cosmic curated COSV71861
- ExAC rs758035498
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.51
- MetaLR 0.89
- MetaSVM 0.96
- CADD 25.00
- PolyPhen-2 0.86
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available