A275T (p.Ala275Thr) variant of ATP1A3 (P13637)
A275T (p.Ala275Thr) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
A275T (p.Ala275Thr) variant details
- p.Ala275Thr
- rs868987618
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57485
- Ensembl rs868987618
- Uncertain significance
- not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.48
- MetaLR 0.72
- MetaSVM 0.57
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.56
- ClinVar: Uncertain significance (not provided; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available