I23T (p.Ile23Thr) variant of SCN9A (Nav1.7)
I23T (p.Ile23Thr) in SCN9A (Nav1.7) 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 0.64 / 1. The record also includes population frequency data and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- rs1389373425
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- 1000Genomes rs1389373425
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.20
- PolyPhen-2 0.43
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available