G89S (p.Gly89Ser) variant of ATP1A3 (P13637)
G89S (p.Gly89Ser) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
G89S (p.Gly89Ser) variant details
- p.Gly89Ser
- rs1057522886
- ClinGen CA16608263
- ClinVar RCV000426824
- Ensembl rs1057522886
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.83
- MetaLR 0.71
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available