D9G (p.Asp9Gly) variant of ATP1A3 (P13637)
D9G (p.Asp9Gly) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- ExAC rs782065058
- gnomAD rs782065058
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Dystonia 12)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available