I274F (p.Ile274Phe) variant of ATP1A3 (P13637)
I274F (p.Ile274Phe) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ATP1A3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
I274F (p.Ile274Phe) variant details
- p.Ile274Phe
- rs879975642
- ClinGen CA406052972
- ClinVar RCV002308727
- Likely pathogenic
- ATP1A3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.52
- MetaLR 0.80
- MetaSVM 0.75
- PolyPhen-2 0.69
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (ATP1A3-related disorder)
- EBI: Likely pathogenic (in DYT12)
- UniProt: Likely pathogenic (in DYT12)
- Structural context available