S32T (p.Ser32Thr) variant of SCN9A (Nav1.7)
S32T (p.Ser32Thr) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S32T (p.Ser32Thr) variant details
- p.Ser32Thr
- rs2105227008
- ClinGen CA349096126
- ClinVar RCV002035084
- ClinVar RCV004693788
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- MetaLR 0.69
- MetaSVM -0.19
- CADD 6.19
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)