D224N (p.Asp224Asn) variant of ATP1A3 (P13637)
D224N (p.Asp224Asn) 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 0.74 / 1. The record also includes population frequency data and structural context.
D224N (p.Asp224Asn) variant details
- p.Asp224Asn
- TOPMed rs1271282195
- gnomAD rs1271282195
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 23.00
- PolyPhen-2 0.53
- SIFT 0.08
- ClinVar: Uncertain significance (Dystonia 12)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available