I85V (p.Ile85Val) variant of SCN1A (P35498)
I85V (p.Ile85Val) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
I85V (p.Ile85Val) variant details
- p.Ile85Val
- rs1574371287
- ClinGen CA349242648
- ClinVar RCV006464369
- Ensembl rs1574371287
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.07
- MetaLR 0.66
- MetaSVM -0.29
- PolyPhen-2 0.14
- SIFT 0.15
- EVE 0.09
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available