I25F (p.Ile25Phe) variant of SCN1A (P35498)
I25F (p.Ile25Phe) 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 0.84 / 1. The record also includes structural context.
I25F (p.Ile25Phe) variant details
- p.Ile25Phe
- rs2105983873
- ClinGen CA349243341
- ClinVar RCV002244425
- Ensembl rs2105983873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.62
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available