I25T (p.Ile25Thr) variant of SCN1A (P35498)
I25T (p.Ile25Thr) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, 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 0.64 / 1. The record also includes population frequency data and structural context.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- TOPMed rs1684699254
- gnomAD rs1684699254
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available